A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751840



Internal ID12985392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205449947..205648197hg38UCSC Ensembl
Innerchr2:206314671..206512921hg19UCSC Ensembl
Innerchr2:206022916..206221166hg18UCSC Ensembl
Innerchr2:206140177..206338427hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38198251
hg19198251
hg18198251
hg17198251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984164, essv6989922, essv6984163, essv6989923, essv6984165
SamplesBEC_792
Known GenesPARD3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751840
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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