A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14577989



Internal ID1337300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95870528..95897308hg38UCSC Ensembl
chr12:96264306..96291086hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3826781
hg1926781
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630439
Supporting Variants
SamplesHG01176
Known GenesCCDC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14577989
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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