A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590858



Internal ID6978186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55501526..55511124hg38UCSC Ensembl
Innerchr2:55502026..55510624hg38UCSC Ensembl
Outerchr2:55500526..55512124hg38UCSC Ensembl
chr2:55728662..55738260hg19UCSC Ensembl
Innerchr2:55729162..55737760hg19UCSC Ensembl
Outerchr2:55727662..55739260hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389599
hg199599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512231
SamplesHG02583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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