A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790293



Internal ID18820067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43470750..43815292hg38UCSC Ensembl
Innerchr2:43697889..44042431hg19UCSC Ensembl
Innerchr2:43551393..43895935hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38344543
hg19344543
hg18344543
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891993
Supporting Variants
Samples
Known GenesABCG5, DYNC2LI1, LOC728819, PLEKHH2, THADA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=85
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790293
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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