A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597628



Internal ID6637896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123609214..123610589hg38UCSC Ensembl
Innerchr3:123609235..123610569hg38UCSC Ensembl
Outerchr3:123609194..123610610hg38UCSC Ensembl
chr3:123328061..123329436hg19UCSC Ensembl
Innerchr3:123328082..123329416hg19UCSC Ensembl
Outerchr3:123328041..123329457hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381376
hg191376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11125367
SamplesHG04035
Known GenesMYLK-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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