A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932331



Internal ID6557624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53908027..53908896hg38UCSC Ensembl
Innerchr1:53908094..53908829hg38UCSC Ensembl
Outerchr1:53907960..53908963hg38UCSC Ensembl
chr1:54373700..54374569hg19UCSC Ensembl
Innerchr1:54373767..54374502hg19UCSC Ensembl
Outerchr1:54373633..54374636hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586080
Supporting Variants
SamplesHG04075
Known GenesDIO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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