A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10640n54



Internal ID20144064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43002769..43128461hg38UCSC Ensembl
chr6:42970507..43096199hg19UCSC Ensembl
chr6:43078485..43204177hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38125693
hg19125693
hg18125693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602995, nsv602994
SamplesHGDP01172
Known GenesCUL7, KLC4, KLHDC3, MEA1, MRPL2, PPP2R5D, PTK7, RRP36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10640n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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