A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797673



Internal ID18832477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71818523..71866132hg38UCSC Ensembl
Innerchr1:72284206..72331815hg19UCSC Ensembl
Innerchr1:72056794..72104403hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847610
hg1947610
hg1847610
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)essv25797673
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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