A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4347141



Internal ID11629679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1297958..1298047hg38UCSC Ensembl
chr8:1246214..1246303hg19UCSC Ensembl
chr8:1233621..1233710hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1702189
Supporting Variants
SamplesHuRef
Known GenesLOC286083
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4347141
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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