A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864470



Internal ID13316964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72489227..72489235hg38UCSC Ensembl
Innerchr5:72489210..72489252hg38UCSC Ensembl
Outerchr5:72489202..72489260hg38UCSC Ensembl
chr5:71785054..71785062hg19UCSC Ensembl
Innerchr5:71785037..71785079hg19UCSC Ensembl
Outerchr5:71785029..71785087hg19UCSC Ensembl
chr5:71820810..71820818hg18UCSC Ensembl
Innerchr5:71820835..71820793hg18UCSC Ensembl
Outerchr5:71820785..71820843hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324960
Supporting Variants
SamplesNA12005
Known GenesZNF366
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864470
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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