A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5585207



Internal ID8562610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:349987..942855hg38UCSC Ensembl
Outerchr11:349830..943008hg38UCSC Ensembl
Innerchr11:349987..942855hg19UCSC Ensembl
Outerchr11:349830..943008hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38593179
hg19593179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660184
Supporting Variants
SamplesHG00323
Known GenesANO9, AP2A2, B4GALNT4, C11orf35, CD151, CDHR5, CEND1, CHID1, DEAF1, DRD4, EFCAB4A, EPS8L2, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, NS3BP, PDDC1, PHRF1, PIDD, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SNORA52, TALDO1, TMEM80, TSPAN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5585207
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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