A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257576



Internal ID1259392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184924644..185106024hg38UCSC Ensembl
chr3:184642432..184823812hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38181381
hg19181381
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598958
Supporting Variants
SamplesNA20770
Known GenesC3orf70, VPS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257576
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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