A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587031



Internal ID4588847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99703554..99740836hg38UCSC Ensembl
Innerchr12:99703579..99740812hg38UCSC Ensembl
Outerchr12:99703530..99740861hg38UCSC Ensembl
chr12:100097332..100134614hg19UCSC Ensembl
Innerchr12:100097357..100134590hg19UCSC Ensembl
Outerchr12:100097308..100134639hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3837283
hg1937283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630536
Supporting Variants
SamplesNA21111
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587031
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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