A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14575587



Internal ID4577403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95794840..95797619hg38UCSC Ensembl
Innerchr12:95794840..95797619hg38UCSC Ensembl
Outerchr12:95794535..95797871hg38UCSC Ensembl
chr12:96188618..96191397hg19UCSC Ensembl
Innerchr12:96188618..96191397hg19UCSC Ensembl
Outerchr12:96188313..96191649hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382780
hg192780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630437
Supporting Variants
SamplesNA18626
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14575587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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