A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578625



Internal ID6703321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909806..224909806hg38UCSC Ensembl
chr2:225774523..225774523hg19UCSC Ensembl
chr2:225482767..225482767hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011163
Supporting Variants
SamplesHuRef
Known GenesDOCK10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578625
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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