A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3673687



Internal ID11741496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222951470..222951470hg38UCSC Ensembl
chr1:223124812..223124812hg19UCSC Ensembl
chr1:221191435..221191435hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1553806
Supporting Variants
SamplesHuRef
Known GenesDISP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3673687
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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