A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751030



Internal ID12637896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55068147..56111950hg38UCSC Ensembl
Innerchr11:54835623..55879426hg19UCSC Ensembl
Innerchr11:54592199..55636002hg18UCSC Ensembl
Innerchr11:54592199..55636002hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg381043804
hg191043804
hg181043804
hg171043804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983190, essv6983189, essv6986364
SamplesBEC_552
Known GenesOR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5L1, OR5L2, OR5W2, OR7E5P, OR8H2, OR8I2, TRIM48, TRIM51, TRIM51HP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751030
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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