A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589995



Internal ID6977323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20423912..20426511hg38UCSC Ensembl
Innerchr2:20423938..20426486hg38UCSC Ensembl
Outerchr2:20423887..20426537hg38UCSC Ensembl
chr2:20623673..20626272hg19UCSC Ensembl
Innerchr2:20623699..20626247hg19UCSC Ensembl
Outerchr2:20623648..20626298hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10425633
SamplesHG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589995
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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