A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659806



Internal ID9925911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51449479..51451783hg38UCSC Ensembl
chr1:51915151..51917455hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382305
hg192305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6405369, essv5946048, essv6515894, essv5911617, essv6596505, essv6353206, essv6261599, essv6263944, essv6068100, essv5692308, essv6425720, essv6115401, essv5695735, essv5940388, essv5698260, essv5879909
SamplesNA19466, NA19399, NA19777, NA19315, NA19210, NA19776, NA19449, NA19099, NA18523, HG01190, HG00638, NA19835, NA19467, HG01342, NA19102, NA19129
Known GenesEPS15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659806
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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