A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657716



Internal ID9923821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213493849..213495000hg38UCSC Ensembl
chr1:213667192..213668343hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6469498, essv6320355, essv5432138, essv5904106, essv6539004, essv5696723, essv6406469, essv5808637
SamplesHG01441, HG00367, HG00261, HG00176, HG00331, HG00375, HG00357, HG00312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657716
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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