A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732038



Internal ID10315674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47382284..47383077hg38UCSC Ensembl
Outerchr6:47350020..47350813hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818234, essv6934739, essv6855245, essv6865605, essv6734363, essv6911355, essv6751607, essv6957027, essv6955039, essv6951922, essv6765032, essv6974797, essv6757406, essv6893545, essv6748760, essv6667573, essv6849150, essv6760049
SamplesSSM059, SSM087, SSM057, SSM021, SSM061, SSM029, SSM026, SSM089, SSM001, SSM086, SSM015, SSM078, SSM025, SSM098, SSM049, SSM056, SSM030, SSM063
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)esv2732038
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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