A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4261673



Internal ID11544211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158473783..158473783hg38UCSC Ensembl
chr1:158443573..158443573hg19UCSC Ensembl
chr1:156710197..156710197hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1173677
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4261673
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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