A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779906



Internal ID19182223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86503138..86538963hg38UCSC Ensembl
Innerchr12:86896915..86932740hg19UCSC Ensembl
Innerchr12:85421046..85456871hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3835826
hg1935826
hg1835826
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892239
Supporting Variants
Samples
Known GenesMGAT4C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779906
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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