A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564460



Internal ID6689156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121511084..121516076hg38UCSC Ensembl
Outerchr12:121948887..121953879hg19UCSC Ensembl
Outerchr12:120433270..120438262hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382940
hg192940
hg182940
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005622
Supporting Variants
SamplesHuRef
Known GenesKDM2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564460
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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