A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3872183



Internal ID11889688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118198248..118198248hg38UCSC Ensembl
chr10:119957760..119957760hg19UCSC Ensembl
chr10:119947750..119947750hg18UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1538733
Supporting Variants
SamplesHuRef
Known GenesCASC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3872183
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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