A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996692



Internal ID7063618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107361522..107361611hg38UCSC Ensembl
chr8:108373750..108373839hg19UCSC Ensembl
chr8:108442926..108443015hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584155
SamplesHuRef
Known GenesANGPT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996692
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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