A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4e49



Internal ID20126475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55568402..55686010hg38UCSC Ensembl
chr11:55335878..55453486hg19UCSC Ensembl
chr11:55092454..55210062hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38117609
hg19117609
hg18117609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2756721, esv2756702, esv2756720, esv2756696
SamplesNA19137, NA18550, NA18564, NA19138
Known GenesOR4C11, OR4C16, OR4C6, OR4P4, OR4S2
MethodSNP array
AnalysisWe searched through the HapMap samples for gaps in long segmental sharing, which exhibited this characteristic of loss of heterozygosity as well as a high rate of IBS mismatches.
Platform[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Comments
ReferenceGusev_et_al_2009
Pubmed ID18971310
Accession Number(s)dgv4e49
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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