A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10561594



Internal ID4743083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82157364..82176010hg38UCSC Ensembl
chr2:82384488..82403134hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3818647
hg1918647
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591461
Supporting Variants
SamplesNA07051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10561594
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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