A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893668



Internal ID18837802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71823988..71866132hg38UCSC Ensembl
Outerchr1:71818523..71871230hg38UCSC Ensembl
Innerchr1:72289671..72331815hg19UCSC Ensembl
Outerchr1:72284206..72336913hg19UCSC Ensembl
Innerchr1:72062259..72104403hg18UCSC Ensembl
Outerchr1:72056794..72109501hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852708
hg1952708
hg1852708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797673, essv25796050
Samples
Known GenesNEGR1, NEGR1-IT1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893668
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer