A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005622



Internal ID6717742
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564460
SamplesHuRef
Known GenesKDM2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005622
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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