A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604592



Internal ID6644842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31890660..31894766hg38UCSC Ensembl
Innerchr5:31890660..31894766hg38UCSC Ensembl
Outerchr5:31890565..31894838hg38UCSC Ensembl
chr5:31890766..31894872hg19UCSC Ensembl
Innerchr5:31890766..31894872hg19UCSC Ensembl
Outerchr5:31890671..31894944hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384107
hg194107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854957
SamplesNA07037
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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