A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10707014



Internal ID2434047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147755217..147760020hg38UCSC Ensembl
Innerchr2:147755217..147760020hg38UCSC Ensembl
Outerchr2:147754717..147760520hg38UCSC Ensembl
chr2:148512786..148517589hg19UCSC Ensembl
Innerchr2:148512786..148517589hg19UCSC Ensembl
Outerchr2:148512286..148518089hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384804
hg194804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592825
Supporting Variants
SamplesHG02146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10707014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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