A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998133



Internal ID7081536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24637567..24638629hg38UCSC Ensembl
Outerchr7:24677186..24678248hg19UCSC Ensembl
Outerchr7:24643711..24644773hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381063
hg191063
hg181063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564734
SamplesHuRef
Known GenesMPP6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998133
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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