A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694767



Internal ID14739268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:396937..398435hg38UCSC Ensembl
Innerchr5:397435..397937hg38UCSC Ensembl
Outerchr5:395937..399435hg38UCSC Ensembl
chr5:397052..398550hg19UCSC Ensembl
Innerchr5:397550..398052hg19UCSC Ensembl
Outerchr5:396052..399550hg19UCSC Ensembl
chr5:450052..451550hg18UCSC Ensembl
Innerchr5:451052..450550hg18UCSC Ensembl
Outerchr5:449052..452550hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334724
Supporting Variants
SamplesNA19240
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694767
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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