A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865494



Internal ID10262426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18401920..18402611hg38UCSC Ensembl
Outerchr6:18402151..18402842hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731640
Supporting Variants
SamplesSSM089
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)essv6865494
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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