A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567323



Internal ID7038705
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999398
Supporting Variants
SamplesHuRef
Known GenesCERS6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567323
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer