A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14399880



Internal ID2219240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17302689..17350779hg38UCSC Ensembl
Innerchr12:17302689..17350779hg38UCSC Ensembl
Outerchr12:17302189..17351279hg38UCSC Ensembl
chr12:17455623..17503713hg19UCSC Ensembl
Innerchr12:17455623..17503713hg19UCSC Ensembl
Outerchr12:17455123..17504213hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3848091
hg1948091
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628709
Supporting Variants
SamplesHG01991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14399880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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