A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792626



Internal ID18814326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70975678..71060271hg38UCSC Ensembl
Innerchr5:70271505..70356098hg19UCSC Ensembl
Innerchr5:70307261..70391854hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3884594
hg1984594
hg1884594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890644
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792626
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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