A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585477



Internal ID6625795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23148701..23153600hg38UCSC Ensembl
Innerchr1:23148701..23153600hg38UCSC Ensembl
Outerchr1:23148415..23153831hg38UCSC Ensembl
chr1:23475194..23480093hg19UCSC Ensembl
Innerchr1:23475194..23480093hg19UCSC Ensembl
Outerchr1:23474908..23480324hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9889343, essv9889342, essv9889344, essv9889340, essv9889341
SamplesHG00171, HG00375, HG00266, HG00284, HG00378
Known GenesLUZP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585477
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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