A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1215892



Internal ID12379015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131367462..131367462hg38UCSC Ensembl
chr12:131852007..131852007hg19UCSC Ensembl
chr12:130417960..130417960hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4304758
SamplesHuRef
Known GenesLOC338797
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1215892
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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