A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586072



Internal ID6973591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53582621..53586845hg38UCSC Ensembl
Innerchr1:53582621..53586845hg38UCSC Ensembl
Outerchr1:53582270..53587124hg38UCSC Ensembl
chr1:54048294..54052518hg19UCSC Ensembl
Innerchr1:54048294..54052518hg19UCSC Ensembl
Outerchr1:54047943..54052797hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384225
hg194225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932222
SamplesHG02976
Known GenesGLIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586072
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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