A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747662



Internal ID10328632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:74987709..74988004hg38UCSC Ensembl
Outerchr13:75561846..75562141hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233e201
Supporting Variantsessv6673437, essv6819919, essv6724666, essv6823812, essv6800396, essv6831485, essv6870853, essv6685234
SamplesSSM045, SSM079, SSM090, SSM031, SSM081, SSM072, SSM078, SSM034
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)esv2747662
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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