A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764934



Internal ID10171923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18401871..18402632hg38UCSC Ensembl
Outerchr6:18402102..18402863hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731640
Supporting Variants
SamplesSSM063
Known GenesRNF144B
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)essv6764934
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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