A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1519481



Internal ID12335917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9116185..9116185hg38UCSC Ensembl
chr1:9176244..9176244hg19UCSC Ensembl
chr1:9098831..9098831hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4133256
SamplesHuRef
Known GenesGPR157
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1519481
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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