A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11165764



Internal ID6744245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143047182..143058196hg38UCSC Ensembl
chr3:142766024..142777038hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3811015
hg1911015
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598016
Supporting Variants
SamplesNA20862
Known GenesU2SURP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11165764
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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