A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795665



Internal ID9657018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47663580..47664290hg38UCSC Ensembl
Outerchr6:47631316..47632026hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732041
Supporting Variants
SamplesSSM009
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)essv6795665
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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