A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161329



Internal ID7906043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31710426..31777788hg38UCSC Ensembl
Innerchr12:31863360..31930722hg19UCSC Ensembl
Innerchr12:31754627..31821989hg18UCSC Ensembl
Innerchr12:31754627..31821989hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3867363
hg1967363
hg1867363
hg1767363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422415
Supporting Variants
SamplesND01693
Known GenesAMN1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161329
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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