A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257575



Internal ID1259391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184840100..184881450hg38UCSC Ensembl
chr3:184557888..184599238hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3841351
hg1941351
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598957
Supporting Variants
SamplesNA20770
Known GenesVPS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257575
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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