A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732075



Internal ID10315711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51931311..51932369hg38UCSC Ensembl
Outerchr6:51796109..51797167hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934744, essv6765035, essv6762655, essv6667576, essv6795687, essv6757410, essv6739985, essv6745948
SamplesSSM059, SSM009, SSM021, SSM062, SSM055, SSM052, SSM030, SSM063
Known GenesPKHD1
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)esv2732075
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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