A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14404208



Internal ID5129701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20732098..20732879hg38UCSC Ensembl
Innerchr12:20732121..20732856hg38UCSC Ensembl
Outerchr12:20732075..20732902hg38UCSC Ensembl
chr12:20885032..20885813hg19UCSC Ensembl
Innerchr12:20885055..20885790hg19UCSC Ensembl
Outerchr12:20885009..20885836hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628789
Supporting Variants
SamplesNA18566
Known GenesSLCO1C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14404208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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