A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1696566



Internal ID5826666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51197135..51197135hg38UCSC Ensembl
chr12:51590918..51590918hg19UCSC Ensembl
chr12:49877185..49877185hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38160
hg19160
hg18160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4330133
SamplesHuRef
Known GenesPOU6F1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1696566
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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