A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474585



Internal ID4476401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46640144..46641703hg38UCSC Ensembl
Innerchr12:46640146..46641702hg38UCSC Ensembl
Outerchr12:46640143..46641705hg38UCSC Ensembl
chr12:47033927..47035486hg19UCSC Ensembl
Innerchr12:47033929..47035485hg19UCSC Ensembl
Outerchr12:47033926..47035488hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629407
Supporting Variants
SamplesHG01029
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474585
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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