A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732357



Internal ID10315993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82384636..82385201hg38UCSC Ensembl
Outerchr6:83094353..83094918hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826459, essv6841312, essv6911399, essv6957084, essv6963809, essv6974865, essv6778253, essv6705083, essv6929163, essv6849210, essv6918889, essv6790569, essv6740019, essv6730936, essv6694209, essv6969431, essv6723287, essv6786457, essv6934787, essv6671180, essv6697959
SamplesSSM027, SSM045, SSM038, SSM028, SSM084, SSM021, SSM047, SSM069, SSM029, SSM026, SSM017, SSM003, SSM031, SSM067, SSM086, SSM040, SSM015, SSM080, SSM037, SSM070, SSM052
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)esv2732357
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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