Variant Details

Variant: esv2658603

Internal ID

9924708

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr21:44951878..44952195	hg38	UCSC Ensembl
	chr21:46371793..46372110	hg19	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	318
hg19	318

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6422943, essv6533064, essv5473410, essv6302178, essv6250435, essv5560623, essv6439075, essv5959228, essv5904956, essv6044693, essv6427828, essv6367475, essv6181080, essv5440302, essv5995834, essv6586053, essv6333730, essv6087092, essv5974233, essv6318540, essv5402435, essv5824771, essv5548337, essv5933976, essv6455542, essv6104269, essv5531882, essv5614642, essv5950239, essv5456418, essv6075479, essv5571324, essv6222123, essv5625122, essv5601545, essv6251095, essv5893307, essv5879243, essv6446188, essv6421232, essv6588098, essv5934303, essv6346007, essv6340579, essv6232288, essv6315613, essv6397163, essv5876168, essv5895465, essv5628385, essv5665638, essv6160289, essv5888957, essv6303833, essv5514238, essv6452098, essv6281268, essv5939808, essv5494139, essv6521873, essv5635494, essv6116231, essv5396689, essv5558849, essv6443486, essv5964243, essv5732166, essv6554008, essv5525370, essv6518856, essv5501359, essv6161334, essv6103344

Samples

NA19394, NA19466, HG01359, NA19399, NA18507, NA18917, NA18486, NA19355, NA20332, NA20346, NA18870, NA19446, HG01366, NA19315, NA19198, NA18916, NA19138, NA12282, NA19383, HG01170, NA19901, NA19189, NA18520, NA19445, NA19985, NA19921, NA19451, HG01124, HG01136, NA19327, NA19455, NA20506, NA18910, NA18871, NA18907, NA19461, NA19114, NA18499, NA18856, NA19099, HG01334, NA19257, NA19225, NA18523, HG01107, NA19401, NA19375, NA19440, NA18909, NA19834, NA19108, NA19147, NA18517, NA19434, HG01551, HG01357, NA19439, NA19428, NA19311, NA19786, HG01108, NA19360, NA19328, NA19713, NA19093, NA18873, NA19213, NA19900, NA19129, NA19312, NA20322, NA19463, NA18522

Known Genes

FAM207A

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2658603

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	73
Observed Complex	0
Frequency	n/a