A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84206



Internal ID11303517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52285116..52391749hg38UCSC Ensembl
Innerchr12:52678900..52785533hg19UCSC Ensembl
Innerchr12:50965167..51071800hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38106634
hg19106634
hg18106634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29967
Supporting Variants
SamplesHuRef
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84206
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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