Variant Details

Variant: esv2676041

Internal ID

9942146

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chrX:120241384..120241728	hg38	UCSC Ensembl
	chrX:119375237..119375583	hg19	UCSC Ensembl

Cytoband

Xq24

Allele length

Assembly	Allele length
hg38	345
hg19	347

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6031415, essv6154462, essv6434519, essv5506484, essv5680732, essv5528800, essv5897655, essv5521907, essv6208850, essv5845439, essv5918156, essv6162949, essv6337026, essv6151501, essv5553351, essv6596692, essv5407752, essv6579251, essv6561790, essv5420059, essv5984890, essv5729261, essv5859651, essv6201778, essv6008951, essv5712978, essv6526705, essv6400113, essv5870266, essv6175413, essv6281608, essv5868683, essv6323016, essv5637428, essv6463261, essv6325899, essv6234012, essv5605713, essv6017646, essv5856981, essv5949245, essv6274002, essv5601586, essv6089539, essv6260990, essv6199373, essv5998766, essv6449486, essv5511205, essv5716936, essv6598436, essv5918222, essv6038941, essv5750382, essv6442224

Samples

HG00442, HG00536, NA18565, NA18980, NA18603, NA18545, NA18526, HG00589, NA19678, HG00448, NA18982, NA20756, NA18571, NA18498, HG00590, HG00705, NA18985, NA18973, NA18539, NA10847, NA18605, HG00557, HG00436, HG00584, HG00583, NA18572, NA18948, HG00619, NA12234, HG00740, NA18573, HG00404, HG00684, NA18553, NA19012, HG00611, NA18535, NA18961, HG00580, NA18941, HG01137, NA06986, HG00620, HG00707, HG00111, NA19093, NA18636, NA18609, NA18552, HG00628, NA18623, NA19074, HG00437, NA18562, NA18577

Known Genes

NKAPP1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2676041

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	55
Observed Complex	0
Frequency	n/a