A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720180



Internal ID9954476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70936903..70937334hg38UCSC Ensembl
Outerchr2:71164033..71164464hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704134, essv6942175, essv6821494, essv6693137, essv6836496, essv6793639, essv6718476, essv6781224, essv6675519, essv6785347, essv6955300, essv6889279, essv6946814, essv6789515, essv6962061, essv6892609, essv6726157, essv6825327, essv6797795, essv6840293, essv6669490
SamplesSSM083, SSM071, SSM027, SSM024, SSM046, SSM079, SSM097, SSM023, SSM084, SSM069, SSM026, SSM032, SSM031, SSM044, SSM068, SSM040, SSM072, SSM080, SSM037, SSM070, SSM098
Known GenesATP6V1B1
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)esv2720180
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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