A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989753



Internal ID12628296
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 StatusS
Merged Variantsesv2751915
Supporting Variants
SamplesBEC_555
Known GenesSPINT4, WFDC13
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989753
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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