A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325303



Internal ID14825584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137780079..137780677hg38UCSC Ensembl
Innerchr9:137780078..137780678hg38UCSC Ensembl
Outerchr9:137779079..137781677hg38UCSC Ensembl
chr9:140674531..140675129hg19UCSC Ensembl
Innerchr9:140674530..140675130hg19UCSC Ensembl
Outerchr9:140673531..140676129hg19UCSC Ensembl
chr9:139794352..139794950hg18UCSC Ensembl
Innerchr9:139794951..139794351hg18UCSC Ensembl
Outerchr9:139793352..139795950hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696580
SamplesNA19239
Known GenesEHMT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325303
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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