A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446612



Internal ID14946876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43296636..43300034hg38UCSC Ensembl
Innerchr6:43297636..43299034hg38UCSC Ensembl
Outerchr6:43295636..43301034hg38UCSC Ensembl
chr6:43264374..43267772hg19UCSC Ensembl
Innerchr6:43265374..43266772hg19UCSC Ensembl
Outerchr6:43263374..43268772hg19UCSC Ensembl
chr6:43372352..43375750hg18UCSC Ensembl
Innerchr6:43373352..43374750hg18UCSC Ensembl
Outerchr6:43371352..43376750hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695306
SamplesNA19239
Known GenesSLC22A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446612
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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