A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9872n54



Internal ID20143296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71037342..71143344hg38UCSC Ensembl
chr5:70333169..70439171hg19UCSC Ensembl
chr5:70368925..70474927hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38106003
hg19106003
hg18106003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598619, nsv598621
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9872n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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