A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850195



Internal ID9901971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72023163..72023232hg38UCSC Ensembl
Outerchr8:72935398..72935467hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737155, esv2737154
Supporting Variants
SamplesSSM086
Known GenesLOC100132891, TRPA1
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)essv6850195
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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