A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14519706



Internal ID2793541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67397180..67398579hg38UCSC Ensembl
Innerchr12:67397202..67398558hg38UCSC Ensembl
Outerchr12:67397159..67398601hg38UCSC Ensembl
chr12:67790960..67792359hg19UCSC Ensembl
Innerchr12:67790982..67792338hg19UCSC Ensembl
Outerchr12:67790939..67792381hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629830
Supporting Variants
SamplesHG02465
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14519706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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