A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629664



Internal ID6669803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59670877..59672437hg38UCSC Ensembl
Innerchr12:59670894..59672420hg38UCSC Ensembl
Outerchr12:59670860..59672454hg38UCSC Ensembl
chr12:60064658..60066218hg19UCSC Ensembl
Innerchr12:60064675..60066201hg19UCSC Ensembl
Outerchr12:60064641..60066235hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14499247, essv14499245, essv14499248, essv14499246, essv14499244, essv14499249
SamplesHG01708, HG02685, HG03895, NA20821, HG01695, NA19916
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629664
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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