A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672163



Internal ID9738865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96787836..96787912hg38UCSC Ensembl
Outerchr8:97800064..97800140hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737339, esv2737341, esv2737337
Supporting Variants
SamplesSSM031
Known GenesCPQ
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)essv6672163
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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