A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1243821



Internal ID12406944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3868290..3868448hg38UCSC Ensembl
chr17:3771584..3771742hg19UCSC Ensembl
chr17:3718333..3718491hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38159
hg19159
hg18159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3761369
SamplesHuRef
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1243821
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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