A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007381



Internal ID6719494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7391600..7405025hg38UCSC Ensembl
Outerchr17:7294919..7308344hg19UCSC Ensembl
Outerchr17:7235643..7249068hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3813426
hg1913426
hg1813426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565658
SamplesHuRef
Known GenesPLSCR3, TMEM256, TMEM256-PLSCR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007381
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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