A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715285



Internal ID10298921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99924932..99925375hg38UCSC Ensembl
Outerchr1:100390488..100390931hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864048, essv6895904, essv6682889, essv6853350, essv6816678, essv6889074, essv6972486, essv6954865, essv6847139, essv6859279, essv6961678, essv6669079
SamplesSSM027, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM034, SSM099
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)esv2715285
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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