A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694092



Internal ID15041281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49550015..49552013hg38UCSC Ensembl
Innerchr3:49551013..49551015hg38UCSC Ensembl
Outerchr3:49549015..49553013hg38UCSC Ensembl
chr3:49587448..49589446hg19UCSC Ensembl
Innerchr3:49588446..49588448hg19UCSC Ensembl
Outerchr3:49586448..49590446hg19UCSC Ensembl
chr3:49562452..49564450hg18UCSC Ensembl
Innerchr3:49563452..49563450hg18UCSC Ensembl
Outerchr3:49561452..49565450hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369484
Supporting Variants
SamplesNA19239
Known GenesBSN-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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