A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631068



Internal ID7017883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126463752..126615992hg38UCSC Ensembl
Innerchr12:126463775..126615970hg38UCSC Ensembl
Outerchr12:126463730..126616015hg38UCSC Ensembl
chr12:126948298..127100538hg19UCSC Ensembl
Innerchr12:126948321..127100516hg19UCSC Ensembl
Outerchr12:126948276..127100561hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38152241
hg19152241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14626020, essv14626021
SamplesHG02429, HG03916
Known GenesLOC100128554
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631068
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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