A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10417856



Internal ID1134444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15583033..15583734hg38UCSC Ensembl
Innerchr2:15583039..15583729hg38UCSC Ensembl
Outerchr2:15583028..15583740hg38UCSC Ensembl
chr2:15723157..15723858hg19UCSC Ensembl
Innerchr2:15723163..15723853hg19UCSC Ensembl
Outerchr2:15723152..15723864hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589916
Supporting Variants
SamplesHG00867
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10417856
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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