A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1457635



Internal ID12274071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21527046..21527046hg38UCSC Ensembl
chr1:21853539..21853539hg19UCSC Ensembl
chr1:21726126..21726126hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3639911
SamplesHuRef
Known GenesALPL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1457635
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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