A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14518694



Internal ID4520510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67263258..67312978hg38UCSC Ensembl
Innerchr12:67263258..67312978hg38UCSC Ensembl
Outerchr12:67262758..67313478hg38UCSC Ensembl
chr12:67657038..67706758hg19UCSC Ensembl
Innerchr12:67657038..67706758hg19UCSC Ensembl
Outerchr12:67656538..67707258hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3849721
hg1949721
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629823
Supporting Variants
SamplesHG01522
Known GenesCAND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14518694
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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