Variant Details

Variant: esv2677599

Internal ID

9597018

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:77828815..77830733	hg38	UCSC Ensembl
	chr14:78295158..78297076	hg19	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	1919
hg19	1919

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6072123, essv5708460, essv6173383, essv5993542, essv6220312, essv5841207, essv5741080, essv6476801, essv6499084, essv6358024, essv5705027, essv5543140, essv5819206, essv6020336, essv5973966, essv6301620, essv5964863, essv6348549, essv5745836, essv5906116, essv5436379, essv6027544, essv5933652, essv5679827, essv6557292, essv6161511, essv6090102, essv6145640, essv5617794, essv5858612, essv6287572, essv5852620, essv5493555, essv6442908, essv5446028, essv6010406, essv5703767, essv5563727, essv6318602, essv5472146, essv6173402, essv5763068, essv6453476, essv5587266, essv5399006, essv6424192, essv5840385, essv5932003, essv5399750, essv5691067, essv5405968, essv6172070, essv5975228, essv5554981, essv5751271, essv6560301

Samples

NA18947, NA12273, HG00100, NA11933, HG00257, NA20805, NA18616, HG00177, HG01461, HG00261, NA12155, NA07357, HG00271, NA07346, NA19068, HG00501, HG00122, NA12348, NA18960, NA07048, NA12283, NA19782, HG00185, NA20336, HG00236, HG00156, HG00325, HG00338, NA18557, NA12828, HG00178, HG01124, HG00149, NA18951, HG00190, HG00732, NA20521, HG00320, HG00344, NA18626, NA18532, NA19059, HG00152, NA12144, NA12778, HG00246, NA18953, HG01148, NA07051, HG00478, NA18987, HG00123, HG00131, HG00274, NA19065, HG01061

Known Genes

ADCK1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2677599

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a