A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592351



Internal ID6979678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127168558..127172096hg38UCSC Ensembl
Innerchr2:127168708..127171946hg38UCSC Ensembl
Outerchr2:127168408..127172246hg38UCSC Ensembl
chr2:127926134..127929672hg19UCSC Ensembl
Innerchr2:127926284..127929522hg19UCSC Ensembl
Outerchr2:127925984..127929822hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663535, essv10663536
SamplesNA19001, HG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592351
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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