A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450099



Internal ID14950361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86052484..86053909hg38UCSC Ensembl
Innerchr9:86052484..86053909hg38UCSC Ensembl
Outerchr9:86052130..86054100hg38UCSC Ensembl
chr9:88667399..88668824hg19UCSC Ensembl
Innerchr9:88667399..88668824hg19UCSC Ensembl
Outerchr9:88667045..88669015hg19UCSC Ensembl
chr9:87857219..87858644hg18UCSC Ensembl
Innerchr9:87857219..87858644hg18UCSC Ensembl
Outerchr9:87856865..87858835hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381426
hg191426
hg181426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4465e59
Supporting Variantsessv8652445
SamplesNA19240
Known GenesGOLM1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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