A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1250756



Internal ID12413880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8331447..8331447hg38UCSC Ensembl
chr1:8391507..8391507hg19UCSC Ensembl
chr1:8314094..8314094hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4006791
SamplesHuRef
Known GenesSLC45A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1250756
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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