A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv149e55



Internal ID11595585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46378520..46591853hg38UCSC Ensembl
chr2:46605659..46818992hg19UCSC Ensembl
chr2:46459163..46672496hg18UCSC Ensembl
chr2:46517310..46730643hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38213334
hg19213334
hg18213334
hg17213334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34650, esv34937
SamplesNA10847, NA12146
Known GenesATP6V1E2, EPAS1, LOC100506142, LOC101805491, PIGF, RHOQ, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv149e55
Frequency
Sample Size771
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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