A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586613



Internal ID4588429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99400153..99408994hg38UCSC Ensembl
Innerchr12:99400169..99408979hg38UCSC Ensembl
Outerchr12:99400138..99409010hg38UCSC Ensembl
chr12:99793931..99802772hg19UCSC Ensembl
Innerchr12:99793947..99802757hg19UCSC Ensembl
Outerchr12:99793916..99802788hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388842
hg198842
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630526
Supporting Variants
SamplesHG02588
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14586613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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