A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782243



Internal ID18828371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66302630..66471921hg38UCSC Ensembl
Innerchr12:66696410..66865701hg19UCSC Ensembl
Innerchr12:64982677..65151968hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38169292
hg19169292
hg18169292
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892212
Supporting Variants
Samples
Known GenesGRIP1, HELB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782243
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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