A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628234



Internal ID7015058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:412083..457880hg38UCSC Ensembl
chr12:521249..567046hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3845798
hg1945798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329534, essv14329536, essv14329535
SamplesHG03836, HG02140, NA18522
Known GenesCCDC77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628234
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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