A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585345



Internal ID346924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13983207..13984024hg38UCSC Ensembl
Outerchr12:13980002..13984338hg38UCSC Ensembl
Innerchr12:14136141..14136958hg19UCSC Ensembl
Outerchr12:14132936..14137272hg19UCSC Ensembl
Innerchr12:14027408..14028225hg18UCSC Ensembl
Outerchr12:14024203..14028539hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384337
hg194337
hg184337
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275049
Supporting Variants
Samples
Known GenesGRIN2B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585345
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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