A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591663



Internal ID6978991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95040588..95041684hg38UCSC Ensembl
Innerchr2:95040588..95041684hg38UCSC Ensembl
Outerchr2:95040442..95041801hg38UCSC Ensembl
chr2:95706333..95707429hg19UCSC Ensembl
Innerchr2:95706333..95707429hg19UCSC Ensembl
Outerchr2:95706187..95707546hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587592
SamplesHG01770
Known GenesMAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591663
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