A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594546



Internal ID6981866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227961236..227964799hg38UCSC Ensembl
Innerchr2:227961245..227964790hg38UCSC Ensembl
Outerchr2:227961227..227964808hg38UCSC Ensembl
chr2:228825952..228829515hg19UCSC Ensembl
Innerchr2:228825961..228829506hg19UCSC Ensembl
Outerchr2:228825943..228829524hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383564
hg193564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870641
SamplesHG02687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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