A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782186



Internal ID4893230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67574161..67578384hg38UCSC Ensembl
Innerchr13:67574661..67577884hg38UCSC Ensembl
Outerchr13:67573161..67579384hg38UCSC Ensembl
chr13:68148293..68152516hg19UCSC Ensembl
Innerchr13:68148793..68152016hg19UCSC Ensembl
Outerchr13:68147293..68153516hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg384224
hg194224
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632562
Supporting Variants
SamplesNA12414
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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