Variant Details

Variant: esv3585241

Internal ID

6625560

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:12794746..12859339	hg38	UCSC Ensembl
Inner	chr1:12795246..12858839	hg38	UCSC Ensembl
Outer	chr1:12793746..12860339	hg38	UCSC Ensembl
	chr1:12854895..12919194	hg19	UCSC Ensembl
Inner	chr1:12855395..12918694	hg19	UCSC Ensembl
Outer	chr1:12853895..12920194	hg19	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	64594
hg19	64300

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9857012, essv9857019, essv9856943, essv9857001, essv9856986, essv9857020, essv9856954, essv9857054, essv9857007, essv9857052, essv9857075, essv9857090, essv9857023, essv9856962, essv9857024, essv9856958, essv9857077, essv9857008, essv9856963, essv9857018, essv9857055, essv9856953, essv9857040, essv9856996, essv9856975, essv9856935, essv9857051, essv9857038, essv9856966, essv9857035, essv9857087, essv9857074, essv9857041, essv9857010, essv9857000, essv9856973, essv9856997, essv9856948, essv9856968, essv9857022, essv9857061, essv9856980, essv9857083, essv9857037, essv9856967, essv9857049, essv9857025, essv9856952, essv9857069, essv9857016, essv9857029, essv9857045, essv9856974, essv9856932, essv9856965, essv9856987, essv9857064, essv9856970, essv9856964, essv9857070, essv9856939, essv9856988, essv9857063, essv9856972, essv9857014, essv9857088, essv9857046, essv9856934, essv9857021, essv9856947, essv9856994, essv9857003, essv9856949, essv9857043, essv9857033, essv9857034, essv9857072, essv9856959, essv9857056, essv9857006, essv9857027, essv9856976, essv9856995, essv9856978, essv9856955, essv9856984, essv9857004, essv9857030, essv9856956, essv9856977, essv9857002, essv9857062, essv9856983, essv9857066, essv9857086, essv9856942, essv9857009, essv9857050, essv9856991, essv9857015, essv9857085, essv9856933, essv9856990, essv9857060, essv9856985, essv9857091, essv9857044, essv9857084, essv9856938, essv9857039, essv9856944, essv9857017, essv9857057, essv9856993, essv9857071, essv9856960, essv9856982, essv9857080, essv9857065, essv9856940, essv9857058, essv9857073, essv9856969, essv9856961, essv9857076, essv9857079, essv9856989, essv9857078, essv9856931, essv9856979, essv9856981, essv9857031, essv9857068, essv9856951, essv9857026, essv9857047, essv9856946, essv9857005, essv9857059, essv9857067, essv9856945, essv9856971, essv9857032, essv9857048, essv9857013, essv9856936, essv9857028, essv9856950, essv9857081, essv9856937, essv9856957, essv9857089, essv9856992, essv9857082, essv9856999, essv9856941, essv9856998, essv9857042, essv9857036, essv9857011, essv9857053

Samples

HG01878, HG01776, HG03755, HG01515, NA20887, NA12718, NA19436, HG00257, NA20890, HG03784, NA21110, HG03711, NA07056, NA11920, HG00596, NA12347, HG03693, HG01105, HG00632, HG01845, NA18603, HG01624, HG02450, NA19334, HG01615, NA19331, HG03894, NA21118, NA18969, HG01174, HG03616, HG01537, HG02146, HG01680, HG01954, HG03099, HG01920, NA18963, HG03951, HG01571, HG04094, NA18965, NA19084, HG03812, HG01950, NA12044, NA20853, HG01968, HG00188, HG00479, NA18559, HG00321, HG02008, HG02588, HG04219, NA20585, NA12763, HG03470, NA18624, HG04206, NA21111, NA19059, NA19076, HG01312, NA21088, HG02700, HG02394, NA12383, HG00140, HG02716, HG02221, HG02772, NA18990, HG00692, HG01183, NA18991, HG03884, HG03926, NA19083, HG01815, HG03241, HG03007, NA19066, NA18593, NA21144, HG01599, HG00584, HG03722, NA21102, NA21115, NA19000, HG03757, HG01948, HG03902, HG02490, HG02449, HG00360, HG03792, HG04161, HG02178, HG01806, HG01766, HG02461, HG00176, HG01281, NA18941, HG00672, HG02017, HG02031, NA20878, HG01676, HG02651, NA20828, HG01351, HG02087, HG00524, NA20542, NA21093, HG04162, HG04093, HG01383, HG03823, NA19789, HG02026, HG00120, HG02406, HG04235, HG00445, HG02301, NA18983, NA18567, HG01971, HG04019, NA12413, HG03238, HG02252, HG01802, NA18946, NA12546, HG02464, HG04177, HG00623, HG00693, NA18611, HG03016, HG01498, NA12874, HG00442, NA18981, HG02315, HG04006, NA19079, HG01377, HG03837, NA19087, HG03730, NA18555, HG01863, HG02425, HG03950, HG01354

Known Genes

HNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585241

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	161
Observed Complex	0
Frequency	n/a