A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1693112



Internal ID12509544
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4134539
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1693112
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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