A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983189



Internal ID12628276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55068147..56102713hg38UCSC Ensembl
Innerchr11:54835623..55870189hg19UCSC Ensembl
Innerchr11:54592199..55626765hg18UCSC Ensembl
Innerchr11:54592199..55626765hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg381034567
hg191034567
hg181034567
hg171034567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751030
Supporting Variants
SamplesBEC_552
Known GenesOR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5L1, OR5L2, OR5W2, OR7E5P, OR8I2, TRIM48, TRIM51, TRIM51HP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983189
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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