A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002601



Internal ID1857137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39380342..39380406hg19UCSC Ensembl
chr7:39346867..39346931hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg1965
hg1865
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3585327
SamplesHuRef
Known GenesPOU6F2
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)esv1002601
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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