A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1262429



Internal ID12425553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37652728..37652728hg38UCSC Ensembl
chr13:38226865..38226865hg19UCSC Ensembl
chr13:37124865..37124865hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3688137
SamplesHuRef
Known GenesTRPC4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1262429
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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