A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604597



Internal ID6644847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32008048..32009492hg38UCSC Ensembl
Innerchr5:32008056..32009485hg38UCSC Ensembl
Outerchr5:32008041..32009500hg38UCSC Ensembl
chr5:32008154..32009598hg19UCSC Ensembl
Innerchr5:32008162..32009591hg19UCSC Ensembl
Outerchr5:32008147..32009606hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854972, essv11854971, essv11854970
SamplesHG02259, HG02286, HG02315
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604597
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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