A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1422449



Internal ID12238885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139687595..139687655hg38UCSC Ensembl
chr8:140699838..140699898hg19UCSC Ensembl
chr8:140769020..140769080hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3716013
SamplesHuRef
Known GenesKCNK9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1422449
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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