A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743446



Internal ID10324416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:129796885..129797200hg38UCSC Ensembl
Outerchr10:131595149..131595464hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803322, essv6688102, essv6879327, essv6856838, essv6958864, essv6897471, essv6827460, essv6850811, essv6812056, essv6894451, essv6866840, essv6862105, essv6976721
SamplesSSM087, SSM073, SSM093, SSM088, SSM029, SSM026, SSM089, SSM035, SSM086, SSM080, SSM076, SSM099, SSM098
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)esv2743446
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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