A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943452



Internal ID9705325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47663610..47664031hg38UCSC Ensembl
Outerchr6:47631346..47631767hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732042, esv2732041
Supporting Variants
SamplesSSM023
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)essv6943452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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