A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637582



Internal ID6677685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:751057..851536hg38UCSC Ensembl
chr16:801057..901536hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38100480
hg19100480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355384, essv15355385, essv15355387, essv15355386
SamplesHG00151, HG00330, HG01455, HG02805
Known GenesCHTF18, GNG13, MIR662, MSLN, PRR25, RPUSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637582
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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