A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14691661



Internal ID6439850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36279206..36281319hg38UCSC Ensembl
Innerchr13:36279223..36281302hg38UCSC Ensembl
Outerchr13:36279189..36281336hg38UCSC Ensembl
chr13:36853343..36855456hg19UCSC Ensembl
Innerchr13:36853360..36855439hg19UCSC Ensembl
Outerchr13:36853326..36855473hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382114
hg192114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631780
Supporting Variants
SamplesNA20508
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14691661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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