A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747631



Internal ID10328601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72542703..72543095hg38UCSC Ensembl
Outerchr13:73116841..73117233hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772248, essv6775868
SamplesSSM065, SSM066
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747631
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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