A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604067



Internal ID2378732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110606868..110611445hg38UCSC Ensembl
Innerchr12:110607018..110611295hg38UCSC Ensembl
Outerchr12:110606718..110611595hg38UCSC Ensembl
chr12:111044673..111049250hg19UCSC Ensembl
Innerchr12:111044823..111049100hg19UCSC Ensembl
Outerchr12:111044523..111049400hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384578
hg194578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630736
Supporting Variants
SamplesHG02108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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