A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751915



Internal ID12638781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45708077..45749572hg38UCSC Ensembl
Innerchr20:44336716..44378211hg19UCSC Ensembl
Innerchr20:43770130..43811618hg18UCSC Ensembl
Innerchr20:43770130..43811618hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3841496
hg1941496
hg1841489
hg1741489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983205, essv6989753
SamplesBEC_555
Known GenesSPINT4, WFDC13
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751915
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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