A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667694



Internal ID9933799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102493191..102494436hg38UCSC Ensembl
chr2:103109650..103110895hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5443193, essv6533759, essv5396232, essv6561158, essv6138001, essv5922219, essv6019765, essv6453078, essv6318275
SamplesNA18908, HG01171, NA19449, NA19712, NA19435, NA19360, NA18501, NA19129, NA19316
Known GenesSLC9A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667694
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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