A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10472n54



Internal ID19002648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31985690..32812026hg38UCSC Ensembl
chr6:31953467..32779803hg19UCSC Ensembl
chr6:32061446..32887781hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38826337
hg19826337
hg18826336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602054, nsv602019
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C4A, C4B, C4B_2, C6orf10, CYP21A1P, CYP21A2, EGFL8, FKBPL, GPSM3, HCG23, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, LOC100507547, MIR6721, MIR6833, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10472n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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