A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594545



Internal ID6981865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227868139..227870516hg38UCSC Ensembl
Innerchr2:227868157..227870499hg38UCSC Ensembl
Outerchr2:227868122..227870534hg38UCSC Ensembl
chr2:228732855..228735232hg19UCSC Ensembl
Innerchr2:228732873..228735215hg19UCSC Ensembl
Outerchr2:228732838..228735250hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382378
hg192378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870638, essv10870639, essv10870640
SamplesHG01892, HG01951, HG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594545
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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