A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3906831



Internal ID11508354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139687417..139687417hg38UCSC Ensembl
chr8:140699660..140699660hg19UCSC Ensembl
chr8:140768842..140768842hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1065914
Supporting Variants
SamplesHuRef
Known GenesKCNK9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3906831
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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