A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1624453



Internal ID12440887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120852823..120852823hg38UCSC Ensembl
chr12:121290626..121290626hg19UCSC Ensembl
chr12:119775009..119775009hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4267269
SamplesHuRef
Known GenesSPPL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1624453
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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