A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994769



Internal ID6730719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143252048..143253209hg38UCSC Ensembl
Outerchr2:144009617..144010778hg19UCSC Ensembl
Outerchr2:143726087..143727248hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3810240
hg1910240
hg1810240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564530
SamplesHuRef
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994769
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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