A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715274



Internal ID10298910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99924574..99925469hg38UCSC Ensembl
Outerchr1:100390130..100391025hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864048, essv6895904, essv6682889, essv6853350, essv6816678, essv6889074, essv6756607, essv6917506, essv6753559, essv6714312, essv6972486, essv6954865, essv6847139, essv6859279, essv6961678, essv6669079, essv6696187, essv6871772
SamplesSSM059, SSM027, SSM087, SSM097, SSM088, SSM058, SSM029, SSM026, SSM089, SSM017, SSM031, SSM086, SSM006, SSM078, SSM091, SSM034, SSM099, SSM043
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)esv2715274
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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