A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438223



Internal ID4440039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32407211..32411434hg38UCSC Ensembl
Innerchr12:32407711..32410934hg38UCSC Ensembl
Outerchr12:32406211..32412434hg38UCSC Ensembl
chr12:32560145..32564368hg19UCSC Ensembl
Innerchr12:32560645..32563868hg19UCSC Ensembl
Outerchr12:32559145..32565368hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384224
hg194224
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629077
Supporting Variants
SamplesHG00100
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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