A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599384



Internal ID6639649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:974637..1010875hg38UCSC Ensembl
chr4:968425..1004663hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3836239
hg1936239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11315060
SamplesNA19043
Known GenesIDUA, SLC26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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