A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1750238



Internal ID12566670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12518474..12520988hg38UCSC Ensembl
chr10:12560473..12562987hg19UCSC Ensembl
chr10:12600479..12602993hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382515
hg192515
hg182515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4202625
SamplesHuRef
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1750238
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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