A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800334



Internal ID18824906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12854043hg38UCSC Ensembl
Innerchr1:12860749..12913896hg19UCSC Ensembl
Innerchr1:12783336..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853443
hg1953148
hg1853148
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891192
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800334
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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