A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577945



Internal ID7049327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236542913..236542913hg38UCSC Ensembl
chr2:237451556..237451556hg19UCSC Ensembl
chr2:237116295..237116295hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38246
hg19246
hg18246
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990173
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577945
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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