A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796050



Internal ID18815946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71823988..71871230hg38UCSC Ensembl
Innerchr1:72289671..72336913hg19UCSC Ensembl
Innerchr1:72062259..72109501hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847243
hg1947243
hg1847243
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893668
Supporting Variants
Samples
Known GenesNEGR1, NEGR1-IT1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796050
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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