A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732078



Internal ID9966396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52051647..52052007hg38UCSC Ensembl
Outerchr6:51916445..51916805hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1005e201
Supporting Variantsessv6794670, essv6930457
SamplesSSM020, SSM071
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)esv2732078
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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