A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8913034



Internal ID13220082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501158..45501170hg38UCSC Ensembl
Innerchr3:45501149..45501179hg38UCSC Ensembl
Outerchr3:45501137..45501191hg38UCSC Ensembl
chr3:45542650..45542662hg19UCSC Ensembl
Innerchr3:45542641..45542671hg19UCSC Ensembl
Outerchr3:45542629..45542683hg19UCSC Ensembl
chr3:45517654..45517666hg18UCSC Ensembl
Innerchr3:45517675..45517645hg18UCSC Ensembl
Outerchr3:45517633..45517687hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436877
Supporting Variants
SamplesNA11931
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8913034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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