A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904719



Internal ID9985797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61033325..61033532hg38UCSC Ensembl
Outerchr8:61945884..61946091hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737070, esv2737069, esv2737072
Supporting Variants
SamplesSSM002
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)essv6904719
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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