A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688373



Internal ID1704810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35185729..35186455hg38UCSC Ensembl
Innerchr13:35185744..35186440hg38UCSC Ensembl
Outerchr13:35185714..35186470hg38UCSC Ensembl
chr13:35759866..35760592hg19UCSC Ensembl
Innerchr13:35759881..35760577hg19UCSC Ensembl
Outerchr13:35759851..35760607hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631759
Supporting Variants
SamplesHG01586
Known GenesNBEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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