A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13621953



Internal ID3623769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127347381..127347959hg38UCSC Ensembl
Innerchr9:127347382..127347958hg38UCSC Ensembl
Outerchr9:127347380..127347960hg38UCSC Ensembl
chr9:130109660..130110238hg19UCSC Ensembl
Innerchr9:130109661..130110237hg19UCSC Ensembl
Outerchr9:130109659..130110239hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621780
Supporting Variants
SamplesNA21115
Known GenesGARNL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13621953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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