A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788748



Internal ID18830417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70995423..71083639hg38UCSC Ensembl
Innerchr5:70291250..70379466hg19UCSC Ensembl
Innerchr5:70327006..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3888217
hg1988217
hg1888217
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, LOC647859, NAIP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788748
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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