A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14593895



Internal ID3451052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103506781..103512175hg38UCSC Ensembl
Innerchr12:103506781..103512175hg38UCSC Ensembl
Outerchr12:103506653..103512322hg38UCSC Ensembl
chr12:103900559..103905953hg19UCSC Ensembl
Innerchr12:103900559..103905953hg19UCSC Ensembl
Outerchr12:103900431..103906100hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385395
hg195395
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630614
Supporting Variants
SamplesHG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14593895
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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