A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732287



Internal ID10315923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73218973..73234353hg38UCSC Ensembl
Outerchr6:73928696..73944076hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3815381
hg1915381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778244, essv6926857, essv6676618, essv6899743, essv6711888
SamplesSSM100, SSM042, SSM019, SSM032, SSM067
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)esv2732287
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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