A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590172



Internal ID6977501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29311089..29460776hg38UCSC Ensembl
Innerchr2:29311125..29460741hg38UCSC Ensembl
Outerchr2:29311054..29460812hg38UCSC Ensembl
chr2:29533955..29683642hg19UCSC Ensembl
Innerchr2:29533991..29683607hg19UCSC Ensembl
Outerchr2:29533920..29683678hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38149688
hg19149688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv680e214
Supporting Variantsessv10438536
SamplesHG01798
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590172
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