A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257577



Internal ID5114089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185041880..185047450hg38UCSC Ensembl
Innerchr3:185041880..185047450hg38UCSC Ensembl
Outerchr3:185041737..185047658hg38UCSC Ensembl
chr3:184759668..184765238hg19UCSC Ensembl
Innerchr3:184759668..184765238hg19UCSC Ensembl
Outerchr3:184759525..184765446hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg385571
hg195571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598959
Supporting Variants
SamplesNA18560
Known GenesVPS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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