A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10512637



Internal ID6791932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56143842..56171006hg38UCSC Ensembl
chr2:56370977..56398141hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3827165
hg1927165
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590877
Supporting Variants
SamplesNA20886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10512637
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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