A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14508359



Internal ID2988478
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629724
Supporting Variants
SamplesHG02642
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14508359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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