A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999398



Internal ID7064917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168538956..168539267hg38UCSC Ensembl
chr2:169395466..169395777hg19UCSC Ensembl
chr2:169103712..169104023hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567323
SamplesHuRef
Known GenesCERS6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999398
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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