A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990549



Internal ID1849541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103463076..103463397hg19UCSC Ensembl
chr7:103250312..103250633hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19322
hg18322
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3566763
SamplesHuRef
Known GenesRELN
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990549
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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