A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592641



Internal ID6979968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138185859..138192153hg38UCSC Ensembl
Innerchr2:138185890..138192122hg38UCSC Ensembl
Outerchr2:138185828..138192184hg38UCSC Ensembl
chr2:138943429..138949723hg19UCSC Ensembl
Innerchr2:138943460..138949692hg19UCSC Ensembl
Outerchr2:138943398..138949754hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg386295
hg196295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10688385
SamplesHG03809
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592641
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