A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4134539



Internal ID11070392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31713739..31714092hg38UCSC Ensembl
chr8:31571255..31571608hg19UCSC Ensembl
chr8:31690797..31691150hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38354
hg19354
hg18354
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1693112
Supporting Variants
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4134539
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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