A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423175



Internal ID14923447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137716005..137716699hg38UCSC Ensembl
Innerchr9:137716005..137716699hg38UCSC Ensembl
Outerchr9:137715563..137717065hg38UCSC Ensembl
chr9:140610457..140611151hg19UCSC Ensembl
Innerchr9:140610457..140611151hg19UCSC Ensembl
Outerchr9:140610015..140611517hg19UCSC Ensembl
chr9:139730278..139730972hg18UCSC Ensembl
Innerchr9:139730278..139730972hg18UCSC Ensembl
Outerchr9:139729836..139731338hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652432
SamplesNA19240
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423175
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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