A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330842



Internal ID14831119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126866961..126869059hg38UCSC Ensembl
Innerchr5:126867961..126868059hg38UCSC Ensembl
Outerchr5:126865961..126870059hg38UCSC Ensembl
chr5:126202653..126204751hg19UCSC Ensembl
Innerchr5:126203653..126203751hg19UCSC Ensembl
Outerchr5:126201653..126205751hg19UCSC Ensembl
chr5:126230552..126232650hg18UCSC Ensembl
Innerchr5:126231552..126231650hg18UCSC Ensembl
Outerchr5:126229552..126233650hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694565
SamplesNA19239
Known GenesMARCH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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