A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10506536



Internal ID4468772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52715137..52831429hg38UCSC Ensembl
Innerchr2:52715637..52830929hg38UCSC Ensembl
Outerchr2:52714137..52832429hg38UCSC Ensembl
chr2:52942275..53058567hg19UCSC Ensembl
Innerchr2:52942775..53058067hg19UCSC Ensembl
Outerchr2:52941275..53059567hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38116293
hg19116293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590798
Supporting Variants
SamplesHG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10506536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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