A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731796



Internal ID9966114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30704135..30704713hg38UCSC Ensembl
Outerchr6:30671912..30672490hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950373, essv6849063
SamplesSSM001, SSM086
Known GenesMDC1
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)esv2731796
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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