A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13408078



Internal ID4909851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:15553787..15563153hg38UCSC Ensembl
Innerchr9:15553787..15563153hg38UCSC Ensembl
Outerchr9:15553612..15563398hg38UCSC Ensembl
chr9:15553785..15563151hg19UCSC Ensembl
Innerchr9:15553785..15563151hg19UCSC Ensembl
Outerchr9:15553610..15563396hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg389367
hg199367
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619783
Supporting Variants
SamplesNA12748
Known GenesCCDC171
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13408078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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