A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1258186



Internal ID12074623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113841967..113841967hg38UCSC Ensembl
chr13:114544940..114544940hg19UCSC Ensembl
chr13:113569003..113569003hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3616870
SamplesHuRef
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1258186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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