A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932190



Internal ID3730672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53533696..53536992hg38UCSC Ensembl
Innerchr1:53533700..53536988hg38UCSC Ensembl
Outerchr1:53533692..53536996hg38UCSC Ensembl
chr1:53999369..54002665hg19UCSC Ensembl
Innerchr1:53999373..54002661hg19UCSC Ensembl
Outerchr1:53999365..54002669hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383297
hg193297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586070
Supporting Variants
SamplesHG03366
Known GenesGLIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932190
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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