A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792592



Internal ID18832020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202184455..202231671hg38UCSC Ensembl
Innerchr1:202153583..202200799hg19UCSC Ensembl
Innerchr1:200420206..200467422hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3847217
hg1947217
hg1847217
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891059
Supporting Variants
Samples
Known GenesLGR6, PTPRVP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792592
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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