A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788940



Internal ID18821302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:14077492..14149743hg38UCSC Ensembl
Innerchr7:14117117..14189368hg19UCSC Ensembl
Innerchr7:14083642..14155893hg18UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3872252
hg1972252
hg1872252
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891062
Supporting Variants
Samples
Known GenesDGKB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788940
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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