A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14515240



Internal ID4351398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66131732..66136478hg38UCSC Ensembl
Innerchr12:66131738..66136472hg38UCSC Ensembl
Outerchr12:66131726..66136484hg38UCSC Ensembl
chr12:66525512..66530258hg19UCSC Ensembl
Innerchr12:66525518..66530252hg19UCSC Ensembl
Outerchr12:66525506..66530264hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384747
hg194747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629797
Supporting Variants
SamplesHG03888
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14515240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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