A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721456



Internal ID10305092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216225054..216227758hg38UCSC Ensembl
Outerchr2:217089777..217092481hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382705
hg192705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864529, essv6764467, essv6951014, essv6917898, essv6962294, essv6773863, essv6698498, essv6793763, essv6801954, essv6672565, essv6968439, essv6730041, essv6810660, essv6973199, essv6840412, essv6869063, essv6788321, essv6756849, essv6679612, essv6777368, essv6942324, essv6875059, essv6707662, essv6759389, essv6898974, essv6669723, essv6769980, essv6733786, essv6736335, essv6752575
SamplesSSM100, SSM059, SSM008, SSM071, SSM027, SSM065, SSM009, SSM073, SSM050, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM061, SSM029, SSM089, SSM017, SSM031, SSM067, SSM033, SSM066, SSM006, SSM005, SSM076, SSM025, SSM049, 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)esv2721456
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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