A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671125



Internal ID9739799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47663612..47664018hg38UCSC Ensembl
Outerchr6:47631348..47631754hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732042, esv2732041
Supporting Variants
SamplesSSM031
Known GenesGPR111
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)essv6671125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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