A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988013



Internal ID6723987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13649431..13649431hg38UCSC Ensembl
chr10:13691431..13691431hg19UCSC Ensembl
chr10:13731437..13731437hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582282
SamplesHuRef
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988013
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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