A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720083



Internal ID9954379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54956087..54956468hg38UCSC Ensembl
Outerchr2:55183224..55183605hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797790, essv6847512, essv6942164, essv6683092, essv6789505, essv6933647, essv6922066, essv6840286, essv6929420, essv6955285, essv6968295, essv6699958, essv6686407, essv6675511
SamplesSSM039, SSM023, SSM028, SSM084, SSM021, SSM018, SSM026, SSM035, SSM032, SSM086, SSM072, SSM020, SSM070, SSM034
Known GenesEML6
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)esv2720083
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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