A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1183049



Internal ID5313154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3522590..3522658hg38UCSC Ensembl
chr4:3524317..3524385hg19UCSC Ensembl
chr4:3494115..3494183hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4005061
SamplesHuRef
Known GenesLRPAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1183049
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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