A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13380789



Internal ID5920508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4202223..4257653hg38UCSC Ensembl
Innerchr9:4202271..4257605hg38UCSC Ensembl
Outerchr9:4202175..4257701hg38UCSC Ensembl
chr9:4202223..4257653hg19UCSC Ensembl
Innerchr9:4202271..4257605hg19UCSC Ensembl
Outerchr9:4202175..4257701hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3855431
hg1955431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619330
Supporting Variants
SamplesNA19331
Known GenesGLIS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13380789
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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