A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696528



Internal ID15099832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129339452..129341150hg38UCSC Ensembl
Innerchr9:129340150..129340452hg38UCSC Ensembl
Outerchr9:129338452..129342150hg38UCSC Ensembl
chr9:132101731..132103429hg19UCSC Ensembl
Innerchr9:132102429..132102731hg19UCSC Ensembl
Outerchr9:132100731..132104429hg19UCSC Ensembl
chr9:131141552..131143250hg18UCSC Ensembl
Innerchr9:131142552..131142250hg18UCSC Ensembl
Outerchr9:131140552..131144250hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374031
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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