A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9864n54



Internal ID20143288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71009726..71119977hg38UCSC Ensembl
chr5:70305553..70415804hg19UCSC Ensembl
chr5:70341309..70451560hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38110252
hg19110252
hg18110252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598580, nsv598582, nsv598616, nsv598618, nsv598604, nsv598615
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)dgv9864n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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