A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789197



Internal ID18832080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71003941..71080664hg38UCSC Ensembl
Innerchr5:70299768..70376491hg19UCSC Ensembl
Innerchr5:70335524..70412247hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3876724
hg1976724
hg1876724
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)essv25789197
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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