A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994338



Internal ID1857791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88890018..88890175hg19UCSC Ensembl
chr14:87959771..87959928hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg19158
hg18158
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3572485
SamplesHuRef
Known GenesSPATA7
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)esv994338
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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