A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8924828



Internal ID14503724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117120..72117132hg38UCSC Ensembl
Innerchr5:72117111..72117141hg38UCSC Ensembl
Outerchr5:72117099..72117150hg38UCSC Ensembl
chr5:71412947..71412959hg19UCSC Ensembl
Innerchr5:71412938..71412968hg19UCSC Ensembl
Outerchr5:71412926..71412977hg19UCSC Ensembl
chr5:71448703..71448715hg18UCSC Ensembl
Innerchr5:71448724..71448694hg18UCSC Ensembl
Outerchr5:71448682..71448733hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3436312
Supporting Variants
SamplesNA19108
Known GenesMAP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8924828
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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