A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42e55



Internal ID22760992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18915920..18940177hg38UCSC Ensembl
chr11:18937467..18961724hg19UCSC Ensembl
chr11:18894043..18918300hg18UCSC Ensembl
chr11:18894043..18918300hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3824258
hg1924258
hg1824258
hg1724258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750995, esv2750994, esv2750993, esv2750992, esv34565
SamplesBEC_617, BEC_645, BEC_717, NA18505, BEC_732
Known GenesMRGPRX1
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)dgv42e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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