A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417232



Internal ID4419048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27275994..27403117hg38UCSC Ensembl
chr12:27428927..27556050hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38127124
hg19127124
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628933
Supporting Variants
SamplesNA19717
Known GenesARNTL2, STK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417232
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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