A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988391



Internal ID7075662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102162901..102167268hg38UCSC Ensembl
Outerchr7:101806181..101810548hg19UCSC Ensembl
Outerchr7:101592901..101597268hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384368
hg194368
hg184368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563640
SamplesHuRef
Known GenesCUX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988391
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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