A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590378



Internal ID6977707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:35872959..35901905hg38UCSC Ensembl
Innerchr2:35872959..35901905hg38UCSC Ensembl
Outerchr2:35872459..35902405hg38UCSC Ensembl
chr2:36098025..36126971hg19UCSC Ensembl
Innerchr2:36098025..36126971hg19UCSC Ensembl
Outerchr2:36097525..36127471hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3828947
hg1928947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv687e214
Supporting Variantsessv10462052
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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