Variant Details

Variant: esv3647496

Internal ID

7034237

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:27734765..27736242	hg38	UCSC Ensembl
Inner	chr22:27734765..27736242	hg38	UCSC Ensembl
Outer	chr22:27734372..27736682	hg38	UCSC Ensembl
	chr22:28130753..28132230	hg19	UCSC Ensembl
Inner	chr22:28130753..28132230	hg19	UCSC Ensembl
Outer	chr22:28130360..28132670	hg19	UCSC Ensembl

Cytoband

22q12.1

Allele length

Assembly	Allele length
hg38	1478
hg19	1478

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16396937, essv16396936, essv16396960, essv16396958, essv16396922, essv16396975, essv16396973, essv16396955, essv16396939, essv16396979, essv16396982, essv16396933, essv16396995, essv16396948, essv16397002, essv16396959, essv16396967, essv16396990, essv16397001, essv16396952, essv16396928, essv16396945, essv16396996, essv16396929, essv16396935, essv16396983, essv16396957, essv16396943, essv16396954, essv16396942, essv16396931, essv16396999, essv16396980, essv16396951, essv16396925, essv16396927, essv16396987, essv16396953, essv16396966, essv16396947, essv16396988, essv16396972, essv16396978, essv16396974, essv16396962, essv16396964, essv16396946, essv16396993, essv16396989, essv16396961, essv16396969, essv16396991, essv16396934, essv16396985, essv16396932, essv16396965, essv16397000, essv16396992, essv16396970, essv16396976, essv16396971, essv16396950, essv16396923, essv16396986, essv16396941, essv16396963, essv16396930, essv16396926, essv16396924, essv16396997, essv16396949, essv16396998, essv16396938, essv16396984, essv16396944, essv16396981, essv16396921, essv16396968, essv16396940, essv16396977, essv16396994, essv16396956

Samples

HG02386, HG03773, HG00671, HG00559, NA18599, HG02017, NA18596, HG02384, HG04001, NA19067, HG00693, NA18969, HG00717, HG01873, HG00589, HG02185, HG02151, HG02087, HG00689, HG00599, NA18567, NA18619, HG00634, NA18618, HG03604, NA21108, HG01848, HG00683, HG00422, NA18986, HG03744, HG02138, NA18557, NA18640, HG00464, NA18645, HG02166, HG00629, HG00443, NA18538, HG00982, NA19056, HG00596, HG02513, HG00557, HG02152, NA19077, HG01864, HG03771, HG00500, HG01029, NA19064, HG02364, NA21124, NA18626, HG00404, HG00531, HG01870, HG02121, HG02081, NA18634, HG00445, NA18541, NA18608, NA21087, NA18632, NA19090, NA19010, HG00631, NA21095, HG02137, NA18615, HG00409, HG02032, HG00656, HG01872, NA18552, NA18984, HG00628, NA18624, HG02351, HG00581

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647496

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	82
Observed Complex	0
Frequency	n/a