A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590496



Internal ID6977825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42066534..42096040hg38UCSC Ensembl
Innerchr2:42066534..42096040hg38UCSC Ensembl
Outerchr2:42066034..42096540hg38UCSC Ensembl
chr2:42293674..42323180hg19UCSC Ensembl
Innerchr2:42293674..42323180hg19UCSC Ensembl
Outerchr2:42293174..42323680hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3829507
hg1929507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10478251
SamplesHG03295
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590496
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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