A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667985



Internal ID9934090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123596576..123598099hg38UCSC Ensembl
chr3:123315423..123316946hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6507775, essv5723464
SamplesNA19190, NA19116
Known GenesMYLK-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667985
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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