A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14398170



Internal ID1332873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17015193..17019383hg38UCSC Ensembl
Innerchr12:17015193..17019383hg38UCSC Ensembl
Outerchr12:17014951..17019611hg38UCSC Ensembl
chr12:17168127..17172317hg19UCSC Ensembl
Innerchr12:17168127..17172317hg19UCSC Ensembl
Outerchr12:17167885..17172545hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384191
hg194191
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628699
Supporting Variants
SamplesHG01174
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14398170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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