A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653304



Internal ID15064566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159585941..159585941hg38UCSC Ensembl
Innerchr2:159585940..159585942hg38UCSC Ensembl
Outerchr2:159585891..159585991hg38UCSC Ensembl
chr2:160442452..160442452hg19UCSC Ensembl
Innerchr2:160442451..160442453hg19UCSC Ensembl
Outerchr2:160442402..160442502hg19UCSC Ensembl
chr2:160150698..160150698hg18UCSC Ensembl
Innerchr2:160150699..160150697hg18UCSC Ensembl
Outerchr2:160150648..160150748hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3388272
Supporting Variants
SamplesNA19239
Known GenesBAZ2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653304
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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