A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970082



Internal ID9728407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601444..40601666hg38UCSC Ensembl
Outerchr8:40458963..40459185hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736914, esv2736913
Supporting Variants
SamplesSSM028
Known GenesZMAT4
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)essv6970082
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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