A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343346



Internal ID15190331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72339697..72339716hg38UCSC Ensembl
Innerchr5:72339693..72339720hg38UCSC Ensembl
Outerchr5:72339674..72339739hg38UCSC Ensembl
chr5:71635524..71635543hg19UCSC Ensembl
Innerchr5:71635520..71635547hg19UCSC Ensembl
Outerchr5:71635501..71635566hg19UCSC Ensembl
chr5:71671280..71671299hg18UCSC Ensembl
Innerchr5:71671303..71671276hg18UCSC Ensembl
Outerchr5:71671257..71671322hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9622736
SamplesNA19143
Known GenesPTCD2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343346
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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