A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1094969



Internal ID12258094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130219581..130219581hg38UCSC Ensembl
chr3:129938424..129938424hg19UCSC Ensembl
chr3:131421114..131421114hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3680427
SamplesHuRef
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1094969
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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