A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10639277



Internal ID5589639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118466040..118476393hg38UCSC Ensembl
Innerchr2:118466048..118476386hg38UCSC Ensembl
Outerchr2:118466033..118476401hg38UCSC Ensembl
chr2:119223616..119233969hg19UCSC Ensembl
Innerchr2:119223624..119233962hg19UCSC Ensembl
Outerchr2:119223609..119233977hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3810354
hg1910354
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592155
Supporting Variants
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10639277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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