A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894210



Internal ID18838593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70392523..70437042hg38UCSC Ensembl
Outerchr5:70374839..70441472hg38UCSC Ensembl
Innerchr5:69688350..69732869hg19UCSC Ensembl
Outerchr5:69670666..69737299hg19UCSC Ensembl
Innerchr5:69724106..69768625hg18UCSC Ensembl
Outerchr5:69706422..69773055hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3866634
hg1966634
hg1866634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784043, essv25783859, essv25782593, essv25783884, essv25784982
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894210
Frequency
Sample Size3017
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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