A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962184



Internal ID9989811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142810396..142811414hg38UCSC Ensembl
Outerchr6:143131533..143132551hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732809
Supporting Variants
SamplesSSM004
Known GenesHIVEP2
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)essv6962184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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