A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678438

Internal ID9597857
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31503220..31504473hg38UCSC Ensembl
chr17:29830238..29831491hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6486579, essv6525077, essv6211609, essv5898100, essv6536505, essv6179355, essv6163905, essv5805422, essv5827724, essv5570063, essv6462075, essv5592845, essv6147752, essv6545796, essv6366988, essv6196325, essv6070809, essv5566335, essv5466706, essv5618423, essv6528879, essv5918728, essv5821719, essv5709043, essv5760046, essv6065376, essv6075841, essv5867999, essv5752285, essv5449229, essv5802676, essv5763202, essv6157871, essv5549555, essv6231777, essv6471463, essv6499981, essv5494722, essv6519364, essv6244224, essv5576832, essv6334965, essv5889463, essv6106611, essv5757528, essv6369397, essv5419883, essv6345340, essv5631892, essv5418589
SamplesNA19625, NA19712, NA18520, NA19904, HG01342, NA19435, NA19317, NA19359, NA19453, NA19449, NA19920, NA19461, HG00701, NA19834, NA19355, NA19472, NA19467, NA19463, NA19383, NA19471, NA19444, NA19396, NA19397, NA19398, NA19440, NA19908, NA19457, NA19213, NA19360, NA19377, NA19395, NA19172, NA19189, NA19374, NA19703, NA19393, NA19373, NA19901, NA19347, NA19909, NA19376, NA19391, NA19723, NA19434, NA19371, NA19916, NA19130, NA19350, NA19381, NA19439
Known GenesRAB11FIP4
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2678438
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer