A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731937



Internal ID10315573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37753761..37753898hg38UCSC Ensembl
Outerchr6:37721537..37721674hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849134, essv6818223
SamplesSSM086, SSM078
Known Genes
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)esv2731937
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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