A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890648



Internal ID18838046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71037342..71073570hg38UCSC Ensembl
Outerchr5:71037342..71083639hg38UCSC Ensembl
Innerchr5:70333169..70369397hg19UCSC Ensembl
Outerchr5:70333169..70379466hg19UCSC Ensembl
Innerchr5:70368925..70405153hg18UCSC Ensembl
Outerchr5:70368925..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3846298
hg1946298
hg1846298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779761, essv25778895, essv25780042, essv25785013, essv25784281, essv25784943
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890648
Frequency
Sample Size3017
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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