A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4187850



Internal ID11470388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17882952..17882952hg38UCSC Ensembl
chr8:17740461..17740461hg19UCSC Ensembl
chr8:17784741..17784741hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1120408
Supporting Variants
SamplesHuRef
Known GenesFGL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4187850
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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