A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892152



Internal ID18839862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17539788..18350960hg38UCSC Ensembl
Outerchr12:17539788..18350960hg38UCSC Ensembl
Innerchr12:17692722..18503894hg19UCSC Ensembl
Outerchr12:17692722..18503894hg19UCSC Ensembl
Innerchr12:17583989..18395161hg18UCSC Ensembl
Outerchr12:17583989..18395161hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38811173
hg19811173
hg18811173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790228
Samples
Known GenesMIR3974, PIK3C2G, RERGL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892152
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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