A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474169



Internal ID4475985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46587435..46597018hg38UCSC Ensembl
Innerchr12:46587435..46597018hg38UCSC Ensembl
Outerchr12:46587094..46597347hg38UCSC Ensembl
chr12:46981218..46990801hg19UCSC Ensembl
Innerchr12:46981218..46990801hg19UCSC Ensembl
Outerchr12:46980877..46991130hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389584
hg199584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629404
Supporting Variants
SamplesHG02079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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