A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585704



Internal ID597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154465433..154465491hg38UCSC Ensembl
Outerchr5:154465231..154476915hg38UCSC Ensembl
Innerchr5:153844993..153845051hg19UCSC Ensembl
Outerchr5:153844791..153856475hg19UCSC Ensembl
Innerchr5:153825186..153825244hg18UCSC Ensembl
Outerchr5:153824984..153836668hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3811685
hg1911685
hg1811685
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275523
Supporting Variants
Samples
Known GenesHAND1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585704
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