A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568349



Internal ID6693045
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005603
Supporting Variants
SamplesHuRef
Known GenesADAM7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568349
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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