A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782698



Internal ID19164647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74033831..74222989hg38UCSC Ensembl
Innerchr12:74427611..74616769hg19UCSC Ensembl
Innerchr12:72713878..72903036hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38189159
hg19189159
hg18189159
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892224
Supporting Variants
Samples
Known GenesLOC100507377
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782698
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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