A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257593



Internal ID1259409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185159834..185173915hg38UCSC Ensembl
Innerchr3:185159834..185173915hg38UCSC Ensembl
Outerchr3:185159334..185174415hg38UCSC Ensembl
chr3:184877622..184891703hg19UCSC Ensembl
Innerchr3:184877622..184891703hg19UCSC Ensembl
Outerchr3:184877122..184892203hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3814082
hg1914082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598963
Supporting Variants
SamplesNA18610
Known GenesEHHADH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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