A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151655



Internal ID3156895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130865802..130875013hg38UCSC Ensembl
chr3:130584646..130593857hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg389212
hg199212
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597776
Supporting Variants
SamplesHG02780
Known GenesATP2C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151655
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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