A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731799



Internal ID9966117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30986328..30987648hg38UCSC Ensembl
Outerchr6:30954105..30955425hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381321
hg191321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794604, essv6893490, essv6701005, essv6794605, essv6969301, essv6719354, essv6963653, essv6719352, essv6865535, essv6926734, essv6886969, essv6956924, essv6934649, essv6719351, essv6701004, essv6833715, essv6833716, essv6841210, essv6794606
SamplesSSM071, SSM027, SSM039, SSM028, SSM084, SSM021, SSM096, SSM026, SSM089, SSM019, SSM044, SSM082, SSM098
Known GenesMUC21
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)esv2731799
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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