A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696612



Internal ID13731285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:26052..28950hg38UCSC Ensembl
Innerchr9:27052..27950hg38UCSC Ensembl
Outerchr9:25052..29950hg38UCSC Ensembl
chr9:26052..28950hg19UCSC Ensembl
Innerchr9:27052..27950hg19UCSC Ensembl
Outerchr9:25052..29950hg19UCSC Ensembl
chr9:16052..18950hg18UCSC Ensembl
Innerchr9:17052..17950hg18UCSC Ensembl
Outerchr9:15052..19950hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446057
Supporting Variants
SamplesNA12892
Known GenesWASH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696612
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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