A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329536



Internal ID5033898
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628234
Supporting Variants
SamplesNA18522
Known GenesCCDC77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329536
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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