A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632042



Internal ID6672167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49256188..49257527hg38UCSC Ensembl
Innerchr13:49256227..49257488hg38UCSC Ensembl
Outerchr13:49256149..49257566hg38UCSC Ensembl
chr13:49830324..49831663hg19UCSC Ensembl
Innerchr13:49830363..49831624hg19UCSC Ensembl
Outerchr13:49830285..49831702hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14719600
SamplesHG01812
Known GenesCDADC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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