A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749822



Internal ID18724068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110160169..110160456hg38UCSC Ensembl
Outerchr13:110160113..110160500hg38UCSC Ensembl
Innerchr13:110812516..110812803hg19UCSC Ensembl
Outerchr13:110812460..110812847hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551075
Supporting Variants
Samples
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749822
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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