A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4344935



Internal ID11627473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118198261..118198261hg38UCSC Ensembl
chr10:119957773..119957773hg19UCSC Ensembl
chr10:119947763..119947763hg18UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1096716
Supporting Variants
SamplesHuRef
Known GenesCASC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4344935
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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