A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586901



Internal ID4588717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99513585..99594120hg38UCSC Ensembl
Innerchr12:99513585..99594120hg38UCSC Ensembl
Outerchr12:99513085..99594620hg38UCSC Ensembl
chr12:99907363..99987898hg19UCSC Ensembl
Innerchr12:99907363..99987898hg19UCSC Ensembl
Outerchr12:99906863..99988398hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3880536
hg1980536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630528
Supporting Variants
SamplesHG03583
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14586901
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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