A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565780



Internal ID6690476
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011293
Supporting Variants
SamplesHuRef
Known GenesPDZD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565780
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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