A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995573



Internal ID7079996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39373591..39530281hg38UCSC Ensembl
Outerchr8:39231110..39387800hg19UCSC Ensembl
Outerchr8:39350267..39506957hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38156691
hg19156691
hg18156691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565789
SamplesHuRef
Known GenesADAM3A, ADAM5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995573
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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