A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677990



Internal ID10091229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72382556..72382896hg38UCSC Ensembl
Outerchr13:72956694..72957034hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747629
Supporting Variants
SamplesSSM032
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)essv6677990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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