A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715396



Internal ID10299032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100817730..100817916hg38UCSC Ensembl
Outerchr1:101283286..101283472hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917509, essv6847140, essv6669081, essv6902604, essv6937748, essv6972489
SamplesSSM013, SSM029, SSM017, SSM031, SSM086, SSM022
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)esv2715396
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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