A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741176



Internal ID13295318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31445620..31445745hg38UCSC Ensembl
Innerchr5:31445670..31445695hg38UCSC Ensembl
Outerchr5:31445570..31445795hg38UCSC Ensembl
chr5:31445727..31445852hg19UCSC Ensembl
Innerchr5:31445777..31445802hg19UCSC Ensembl
Outerchr5:31445677..31445902hg19UCSC Ensembl
chr5:31481484..31481609hg18UCSC Ensembl
Innerchr5:31481534..31481559hg18UCSC Ensembl
Outerchr5:31481434..31481659hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3410696
Supporting Variants
SamplesNA12878
Known GenesDROSHA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741176
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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