A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13070076



Internal ID3071892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2940539..3065852hg38UCSC Ensembl
chr8:2798061..2923374hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38125314
hg19125314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615897
Supporting Variants
SamplesNA19058
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13070076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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