A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211448



Internal ID3865478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61865874..61906187hg38UCSC Ensembl
chr8:62778433..62818746hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3840314
hg1940314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617397
Supporting Variants
SamplesHG03511
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211448
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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