A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805473



Internal ID9862796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73208923..73223585hg38UCSC Ensembl
Outerchr6:73918646..73933308hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3814663
hg1914663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732285
Supporting Variants
SamplesSSM074
Known GenesKHDC1L
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)essv6805473
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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