A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872592



Internal ID874408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228866572..228873150hg38UCSC Ensembl
Innerchr2:228866587..228873136hg38UCSC Ensembl
Outerchr2:228866558..228873165hg38UCSC Ensembl
chr2:229731288..229737866hg19UCSC Ensembl
Innerchr2:229731303..229737852hg19UCSC Ensembl
Outerchr2:229731274..229737881hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386579
hg196579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594564
Supporting Variants
SamplesHG01672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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