A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984165



Internal ID12977783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205487416..205590678hg38UCSC Ensembl
Innerchr2:206352140..206455402hg19UCSC Ensembl
Innerchr2:206060385..206163647hg18UCSC Ensembl
Innerchr2:206177646..206280908hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38103263
hg19103263
hg18103263
hg17103263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751840
Supporting Variants
SamplesBEC_792
Known GenesPARD3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984165
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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