A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694728



Internal ID15047073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2531338..2532336hg38UCSC Ensembl
Innerchr5:2531337..2532337hg38UCSC Ensembl
Outerchr5:2530338..2533336hg38UCSC Ensembl
chr5:2531452..2532450hg19UCSC Ensembl
Innerchr5:2531451..2532451hg19UCSC Ensembl
Outerchr5:2530452..2533450hg19UCSC Ensembl
chr5:2584452..2585450hg18UCSC Ensembl
Innerchr5:2585451..2584451hg18UCSC Ensembl
Outerchr5:2583452..2586450hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400700
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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