A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721851



Internal ID9956149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204470758..204472158hg38UCSC Ensembl
Outerchr1:204439886..204441286hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821335, essv6816775, essv6836330, essv6761951, essv6719976, essv6689396, essv6829149, essv6703993, essv6753633, essv6811376, essv6696809, essv6961794, essv6954992, essv6722146, essv6777079, essv6871836, essv6764280, essv6714398, essv6972632, essv6747911, essv6929223, essv6785987, essv6864149, essv6759183, essv6750729, essv6816777, essv6847269, essv6902687, essv6914116, essv6968098, essv6859371, essv6697103, essv6853470, essv6921896, essv6766667, essv6878120, essv6756662, essv6954990, essv6954991, essv6951584, essv6769679, essv6773593, essv6804537, essv6736102
SamplesSSM065, SSM007, SSM027, SSM013, SSM086, SSM006, SSM036, SSM091, SSM061, SSM040, SSM078, SSM043, SSM088, SSM089, SSM064, SSM020, SSM016, SSM057, SSM045, SSM067, SSM083, SSM050, SSM062, SSM012, SSM056, SSM009, SSM066, SSM028, SSM029, SSM002, SSM063, SSM087, SSM038, SSM079, SSM074, SSM004, SSM026, SSM018, SSM058, SSM059, SSM081
Known GenesPIK3C2B
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)esv2721851
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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