A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1085367



Internal ID11901806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:999858..999944hg38UCSC Ensembl
chr4:993646..993732hg19UCSC Ensembl
chr4:983646..983732hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3649118
SamplesHuRef
Known GenesIDUA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1085367
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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