A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720018



Internal ID10303654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46682988..46683323hg38UCSC Ensembl
Outerchr2:46910127..46910462hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669463, essv6813434, essv6821478, essv6816935, essv6810550, essv6853689, essv6675501, essv6880634, essv6968284, essv6859532, essv6955274, essv6847500, essv6825309, essv6864328, essv6836485, essv6906399, essv6972896, essv6929410, essv6686401, essv6846454, essv6889263
SamplesSSM083, SSM011, SSM079, SSM087, SSM097, SSM088, SSM028, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM020, SSM078, SSM080, SSM077, SSM076
Known Genes
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)esv2720018
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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