A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14422513



Internal ID3999396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28544636..28594803hg38UCSC Ensembl
chr12:28697569..28747736hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3850168
hg1950168
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628971
Supporting Variants
SamplesHG03649
Known GenesCCDC91
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14422513
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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