A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693548



Internal ID15006903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239280319..239283017hg38UCSC Ensembl
Innerchr2:239281319..239282017hg38UCSC Ensembl
Outerchr2:239279319..239284018hg38UCSC Ensembl
chr2:240202015..240204713hg19UCSC Ensembl
Innerchr2:240203015..240203713hg19UCSC Ensembl
Outerchr2:240201015..240205713hg19UCSC Ensembl
chr2:239866952..239869650hg18UCSC Ensembl
Innerchr2:239867952..239868650hg18UCSC Ensembl
Outerchr2:239865952..239870650hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3389429
Supporting Variants
SamplesNA19238
Known GenesHDAC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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