A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780189



Internal ID18834307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235099847..235133623hg38UCSC Ensembl
Innerchr1:235263162..235296938hg19UCSC Ensembl
Innerchr1:233329785..233363561hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3833777
hg1933777
hg1833777
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891237
Supporting Variants
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780189
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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