A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10415041



Internal ID5806184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14712751..14715113hg38UCSC Ensembl
Innerchr2:14712759..14715106hg38UCSC Ensembl
Outerchr2:14712744..14715121hg38UCSC Ensembl
chr2:14852875..14855237hg19UCSC Ensembl
Innerchr2:14852883..14855230hg19UCSC Ensembl
Outerchr2:14852868..14855245hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589897
Supporting Variants
SamplesNA19184
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10415041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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