A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1227692



Internal ID12044129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1229703..1229703hg38UCSC Ensembl
chr10:1275643..1275643hg19UCSC Ensembl
chr10:1265643..1265643hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4149316
SamplesHuRef
Known GenesADARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1227692
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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