A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10661093



Internal ID6948279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126874356..126883595hg38UCSC Ensembl
Innerchr2:126874406..126883545hg38UCSC Ensembl
Outerchr2:126874296..126883655hg38UCSC Ensembl
chr2:127631932..127641171hg19UCSC Ensembl
Innerchr2:127631982..127641121hg19UCSC Ensembl
Outerchr2:127631872..127641231hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389240
hg199240
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592346
Supporting Variants
SamplesNA21129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10661093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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