A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720179



Internal ID9954475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70936496..70937524hg38UCSC Ensembl
Outerchr2:71163626..71164654hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704134, essv6710897, essv6942175, essv6847529, essv6821494, essv6693137, essv6950882, essv6938009, essv6750841, essv6836496, essv6879586, essv6777253, essv6922079, essv6793639, essv6718476, essv6781224, essv6751442, essv6675519, essv6829294, essv6785347, essv6955300, essv6889279, essv6946814, essv6789515, essv6968303, essv6962061, essv6853716, essv6769855, essv6892609, essv6773750, essv6726157, essv6825327, essv6797795, essv6917759, essv6787242, essv6722307, essv6929428, essv6844151, essv6972930, essv6840293, essv6714566, essv6669490, essv6925972
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM097, SSM009, SSM042, SSM057, SSM023, SSM028, SSM084, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM080, SSM037, SSM022, SSM070, SSM025, SSM043, SSM098, SSM012
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)esv2720179
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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