A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1348309



Internal ID12511431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176218211..176218211hg38UCSC Ensembl
chr4:177139362..177139362hg19UCSC Ensembl
chr4:177376356..177376356hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3681393
SamplesHuRef
Known GenesASB5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1348309
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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