A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432641



Internal ID15279597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6570939..6571837hg38UCSC Ensembl
Innerchr5:6570938..6571838hg38UCSC Ensembl
Outerchr5:6569939..6572837hg38UCSC Ensembl
chr5:6571052..6571950hg19UCSC Ensembl
Innerchr5:6571051..6571951hg19UCSC Ensembl
Outerchr5:6570052..6572950hg19UCSC Ensembl
chr5:6624052..6624950hg18UCSC Ensembl
Innerchr5:6624951..6624051hg18UCSC Ensembl
Outerchr5:6623052..6625950hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694838
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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