A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775156



Internal ID10181122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61033312..61033536hg38UCSC Ensembl
Outerchr8:61945871..61946095hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737070, esv2737069
Supporting Variants
SamplesSSM066
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)essv6775156
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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