A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011293



Internal ID6723381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31941908..31949978hg38UCSC Ensembl
Outerchr5:31942014..31950084hg19UCSC Ensembl
Outerchr5:31977771..31985841hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg388071
hg198071
hg188071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565780
SamplesHuRef
Known GenesPDZD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011293
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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