A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719924



Internal ID10303560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36728467..36728854hg38UCSC Ensembl
Outerchr2:36955610..36955997hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902808, essv6825302, essv6745158, essv6689537, essv6846410, essv6922042, essv6764366, essv6750822, essv6704117, essv6813428, essv6669441, essv6910357, essv6710871, essv6733689, essv6946791, essv6819042, essv6671510, essv6972880, essv6697191, essv6686393, essv6859518, essv6942138, essv6766762, essv6793613, essv6697643, essv6777228, essv6853676, essv6781197, essv6847483, essv6804639, essv6722287, essv6714546, essv6816925, essv6807597, essv6718455, essv6821469, essv6929401, essv6789483, essv6886203, essv6675491, essv6906388, essv6785322, essv6844126, essv6810545, essv6797774
SamplesSSM036, SSM071, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM013, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM018, SSM069, SSM029, SSM096, SSM035, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM015, SSM078, SSM005, SSM080, SSM077, SSM076, SSM055, SSM070, SSM043, SSM049, SSM063
Known GenesVIT
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)esv2719924
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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