A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591186



Internal ID6631470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69656938..69670249hg38UCSC Ensembl
Innerchr2:69656962..69670225hg38UCSC Ensembl
Outerchr2:69656914..69670273hg38UCSC Ensembl
chr2:69884070..69897381hg19UCSC Ensembl
Innerchr2:69884094..69897357hg19UCSC Ensembl
Outerchr2:69884046..69897405hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3813312
hg1913312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10534614
SamplesHG03718
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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