A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14400076



Internal ID2233638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17863285..17865544hg38UCSC Ensembl
Innerchr12:17863291..17865538hg38UCSC Ensembl
Outerchr12:17863279..17865550hg38UCSC Ensembl
chr12:18016219..18018478hg19UCSC Ensembl
Innerchr12:18016225..18018472hg19UCSC Ensembl
Outerchr12:18016213..18018484hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628719
Supporting Variants
SamplesHG02008
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14400076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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