A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774539



Internal ID10180568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18401872..18402571hg38UCSC Ensembl
Outerchr6:18402103..18402802hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731640
Supporting Variants
SamplesSSM066
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)essv6774539
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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