A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590158



Internal ID6630445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28384427..28388720hg38UCSC Ensembl
Innerchr2:28384431..28388717hg38UCSC Ensembl
Outerchr2:28384424..28388724hg38UCSC Ensembl
chr2:28607294..28611587hg19UCSC Ensembl
Innerchr2:28607298..28611584hg19UCSC Ensembl
Outerchr2:28607291..28611591hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384294
hg194294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10437168
SamplesNA20762
Known GenesFLJ31356
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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