A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784032



Internal ID18821444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110225473hg38UCSC Ensembl
Innerchr2:110871665..110983050hg19UCSC Ensembl
Innerchr2:110228954..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38111386
hg19111386
hg18111386
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893070
Supporting Variants
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784032
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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