A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780300



Internal ID19168760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8516249..8854714hg38UCSC Ensembl
Innerchr7:8555879..8894344hg19UCSC Ensembl
Innerchr7:8522404..8860869hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38338466
hg19338466
hg18338466
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891041
Supporting Variants
Samples
Known GenesNXPH1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=141
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780300
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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