A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593147



Internal ID6980471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160948704..160952574hg38UCSC Ensembl
Innerchr2:160948731..160952547hg38UCSC Ensembl
Outerchr2:160948677..160952601hg38UCSC Ensembl
chr2:161805215..161809085hg19UCSC Ensembl
Innerchr2:161805242..161809058hg19UCSC Ensembl
Outerchr2:161805188..161809112hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg383871
hg193871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733902
SamplesHG03280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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