A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13607820



Internal ID5372680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114594874..114597099hg38UCSC Ensembl
Innerchr9:114594925..114597048hg38UCSC Ensembl
Outerchr9:114594823..114597150hg38UCSC Ensembl
chr9:117357154..117359379hg19UCSC Ensembl
Innerchr9:117357205..117359328hg19UCSC Ensembl
Outerchr9:117357103..117359430hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382226
hg192226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621561
Supporting Variants
SamplesNA18915
Known GenesATP6V1G1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13607820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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