A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798908



Internal ID9855441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73210830..73243335hg38UCSC Ensembl
Outerchr6:73920553..73953058hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3832506
hg1932506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732286
Supporting Variants
SamplesSSM072
Known GenesKHDC1, KHDC1L
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)essv6798908
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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