A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891237



Internal ID18838947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235099847..235133623hg38UCSC Ensembl
Outerchr1:235099847..235133623hg38UCSC Ensembl
Innerchr1:235263162..235296938hg19UCSC Ensembl
Outerchr1:235263162..235296938hg19UCSC Ensembl
Innerchr1:233329785..233363561hg18UCSC Ensembl
Outerchr1:233329785..233363561hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3833777
hg1933777
hg1833777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780189
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891237
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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