A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893488



Internal ID9666208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601418..40601919hg38UCSC Ensembl
Outerchr8:40458937..40459438hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736914, esv2736913
Supporting Variants
SamplesSSM012
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)essv6893488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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