A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564510



Internal ID7035610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54602364..54603352hg38UCSC Ensembl
Outerchr12:54996148..54997136hg19UCSC Ensembl
Outerchr12:53282415..53283403hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383317
hg193317
hg183317
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004157
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564510
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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