A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4356438



Internal ID11292290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51858419..51858419hg38UCSC Ensembl
chr10:53618179..53618179hg19UCSC Ensembl
chr10:53288185..53288185hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1311797
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4356438
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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