A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005603



Internal ID6717723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24464754..24464939hg38UCSC Ensembl
chr8:24322267..24322452hg19UCSC Ensembl
chr8:24378157..24378342hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568349
SamplesHuRef
Known GenesADAM7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005603
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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