A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486568



Internal ID5733730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56066403..56070463hg38UCSC Ensembl
Innerchr12:56066451..56070415hg38UCSC Ensembl
Outerchr12:56066355..56070511hg38UCSC Ensembl
chr12:56460187..56464247hg19UCSC Ensembl
Innerchr12:56460235..56464199hg19UCSC Ensembl
Outerchr12:56460139..56464295hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629593
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486568
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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