A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1142468



Internal ID12305591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39150936..39151034hg38UCSC Ensembl
chr8:39008455..39008553hg19UCSC Ensembl
chr8:39127612..39127710hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3986741
SamplesHuRef
Known GenesADAM32
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1142468
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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