A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1305470



Internal ID12121906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123946025..123946025hg38UCSC Ensembl
chr12:124430572..124430572hg19UCSC Ensembl
chr12:122996525..122996525hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884
hg1984
hg1884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3822442
SamplesHuRef
Known GenesCCDC92
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1305470
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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