A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589891



Internal ID6977221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14511210..14513950hg38UCSC Ensembl
Innerchr2:14511260..14513900hg38UCSC Ensembl
Outerchr2:14511126..14514034hg38UCSC Ensembl
chr2:14651334..14654074hg19UCSC Ensembl
Innerchr2:14651384..14654024hg19UCSC Ensembl
Outerchr2:14651250..14654158hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382741
hg192741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10414794
SamplesHG02255
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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