A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161478



Internal ID7906192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22755560..24382791hg38UCSC Ensembl
Innerchr13:23329699..24956929hg19UCSC Ensembl
Innerchr13:22227699..23854929hg18UCSC Ensembl
Innerchr13:22227699..23854929hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381627232
hg191627231
hg181627231
hg171627231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422502
Supporting Variants
SamplesND01934
Known GenesANKRD20A19P, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161478
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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