A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629724



Internal ID7016545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61735607..61737868hg38UCSC Ensembl
Innerchr12:61735607..61737868hg38UCSC Ensembl
Outerchr12:61735489..61738046hg38UCSC Ensembl
chr12:62129388..62131649hg19UCSC Ensembl
Innerchr12:62129388..62131649hg19UCSC Ensembl
Outerchr12:62129270..62131827hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382262
hg192262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14508358, essv14508359
SamplesHG01366, HG02642
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629724
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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