A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4190510



Internal ID11126362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43181883..43181883hg38UCSC Ensembl
chr10:43677331..43677331hg19UCSC Ensembl
chr10:42997337..42997337hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381437
hg191437
hg181437
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1015880
Supporting Variants
SamplesHuRef
Known GenesCSGALNACT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4190510
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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