A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv182e199



Internal ID11592441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:349830..943372hg38UCSC Ensembl
chr11:349830..943372hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38593543
hg19593543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2660184, esv2665307
SamplesHG00323, HG01055, NA18541, NA18873, HG01133, NA12272, NA18983, NA20317, HG00272
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)dgv182e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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