A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10628731



Internal ID6556722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112347995..112359092hg38UCSC Ensembl
Innerchr2:112348024..112359064hg38UCSC Ensembl
Outerchr2:112347967..112359121hg38UCSC Ensembl
chr2:113105572..113116669hg19UCSC Ensembl
Innerchr2:113105601..113116641hg19UCSC Ensembl
Outerchr2:113105544..113116698hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3811098
hg1911098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592005
Supporting Variants
SamplesNA20755
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10628731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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