A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864444



Internal ID13316924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41180834..41180845hg38UCSC Ensembl
Innerchr5:41180836..41180843hg38UCSC Ensembl
Outerchr5:41180832..41180847hg38UCSC Ensembl
chr5:41180936..41180947hg19UCSC Ensembl
Innerchr5:41180938..41180945hg19UCSC Ensembl
Outerchr5:41180934..41180949hg19UCSC Ensembl
chr5:41216693..41216704hg18UCSC Ensembl
Innerchr5:41216695..41216702hg18UCSC Ensembl
Outerchr5:41216691..41216706hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369983
Supporting Variants
SamplesNA12005
Known GenesC6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864444
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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