Variant Details

Variant: esv3305257

Internal ID

15152205

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:221795812..221795813	hg38	UCSC Ensembl
Inner	chr1:221795795..221795830	hg38	UCSC Ensembl
Outer	chr1:221795794..221795831	hg38	UCSC Ensembl
	chr1:221969154..221969155	hg19	UCSC Ensembl
Inner	chr1:221969137..221969172	hg19	UCSC Ensembl
Outer	chr1:221969136..221969173	hg19	UCSC Ensembl
	chr1:220035777..220035778	hg18	UCSC Ensembl
Inner	chr1:220035795..220035760	hg18	UCSC Ensembl
Outer	chr1:220035759..220035796	hg18	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	307
hg19	307
hg18	307

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7803051, essv7786202, essv7788038, essv7817372, essv7814426, essv7777420, essv7812351, essv7811679, essv7771382, essv7782357, essv7825233, essv7772633, essv7812464, essv7780402, essv7821880, essv7795739, essv7770665, essv7815990, essv7819892, essv7800573, essv7833254, essv7785972, essv7822131, essv7795270, essv7816348, essv7809841, essv7776419, essv7827663, essv7808030, essv7790294, essv7797100, essv7833903, essv7787367, essv7834209, essv7810651, essv7770226, essv7824745, essv7819222, essv7798958, essv7798179, essv7823850, essv7803393, essv7806882, essv7801479, essv7811122, essv7825864, essv7801836, essv7795014, essv7789400, essv7784691, essv7821012, essv7826886, essv7832717, essv7800131, essv7787746, essv7779054, essv7835979, essv7829408, essv7786707, essv7796465, essv7819600, essv7783360, essv7814114, essv7812800, essv7798002, essv7774626, essv7802151, essv7783081

Samples

NA18502, NA12717, NA11830, NA11995, NA11829, NA18592, NA18508, NA12814, NA12414, NA18561, NA11920, NA18603, NA18486, NA18959, NA19190, NA18870, NA18526, NA07357, NA18944, NA18940, NA18558, NA18916, NA11918, NA07347, NA18582, NA11994, NA12815, NA12828, NA18638, NA11993, NA10847, NA18605, NA19210, NA12003, NA12878, NA12872, NA18956, NA18516, NA18579, NA18572, NA18537, NA18566, NA18573, NA11919, NA18499, NA18856, NA12249, NA12892, NA12144, NA18523, NA18593, NA18945, NA18576, NA18608, NA18953, NA12716, NA11881, NA18961, NA18952, NA19147, NA18564, NA07037, NA18501, NA18609, NA19102, NA19116, NA12154, NA18965

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3305257

Frequency

Sample Size	185
Observed Gain	68
Observed Loss	0
Observed Complex	0
Frequency	n/a