A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981052



Internal ID12972729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40617374..40761474hg38UCSC Ensembl
Innerchr11:40638924..40783024hg19UCSC Ensembl
Innerchr11:40595500..40739600hg18UCSC Ensembl
Innerchr11:40595500..40739600hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38144101
hg19144101
hg18144101
hg17144101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751023
Supporting Variants
SamplesBEC_345
Known GenesLRRC4C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981052
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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