A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564870



Internal ID6689566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124439221..124442651hg38UCSC Ensembl
Outerchr12:124923767..124927197hg19UCSC Ensembl
Outerchr12:123489720..123493150hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383252
hg193252
hg183252
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008328
Supporting Variants
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564870
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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