A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892124



Internal ID18839834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1257345..1262948hg38UCSC Ensembl
Outerchr12:1257345..1262948hg38UCSC Ensembl
Innerchr12:1366511..1372114hg19UCSC Ensembl
Outerchr12:1366511..1372114hg19UCSC Ensembl
Innerchr12:1236772..1242375hg18UCSC Ensembl
Outerchr12:1236772..1242375hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385604
hg195604
hg185604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779423
Samples
Known GenesERC1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892124
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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