A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628850



Internal ID6668991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23593084..23595625hg38UCSC Ensembl
Innerchr12:23593084..23595625hg38UCSC Ensembl
Outerchr12:23592914..23595856hg38UCSC Ensembl
chr12:23746018..23748559hg19UCSC Ensembl
Innerchr12:23746018..23748559hg19UCSC Ensembl
Outerchr12:23745848..23748790hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410208, essv14410209, essv14410213, essv14410212, essv14410207, essv14410211, essv14410214, essv14410210
SamplesHG03478, HG02840, HG02860, HG02820, HG01119, HG03388, HG01286, HG02851
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628850
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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