A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990956



Internal ID6726921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:515573..515573hg38UCSC Ensembl
chr6:515573..515573hg19UCSC Ensembl
chr6:460573..460573hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585848
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990956
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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