A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4166618



Internal ID11102470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183017876..183017876hg38UCSC Ensembl
chr3:182735664..182735664hg19UCSC Ensembl
chr3:184218358..184218358hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38165
hg19165
hg18165
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1601884
Supporting Variants
SamplesHuRef
Known GenesMCCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4166618
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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