A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004432



Internal ID6716556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24953857..24957199hg38UCSC Ensembl
Outerchr6:24954085..24957427hg19UCSC Ensembl
Outerchr6:25062064..25065406hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg383343
hg193343
hg183343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563830
SamplesHuRef
Known GenesFAM65B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004432
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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