A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971038



Internal ID10074232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100126338..100131080hg38UCSC Ensembl
Outerchr13:100778592..100783334hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384743
hg194743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747877
Supporting Variants
SamplesSSM028
Known GenesPCCA
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)essv6971038
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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