A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4202522



Internal ID11138374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77520215..77520215hg38UCSC Ensembl
chr10:79279973..79279973hg19UCSC Ensembl
chr10:78949979..78949979hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1550853
Supporting Variants
SamplesHuRef
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4202522
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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