A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590889



Internal ID6978217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56511480..56593595hg38UCSC Ensembl
chr2:56738615..56820730hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3882116
hg1982116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv697e214
Supporting Variantsessv10515059, essv10515061, essv10515060
SamplesNA18550, HG02399, NA20334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590889
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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