A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1231222



Internal ID12047659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1672674..1672674hg38UCSC Ensembl
chr10:1714868..1714868hg19UCSC Ensembl
chr10:1704868..1704868hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3797809
SamplesHuRef
Known GenesADARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1231222
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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