A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630994



Internal ID6671127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628443..123711069hg38UCSC Ensembl
chr12:124112990..124195616hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3882627
hg1982627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309e214
Supporting Variantsessv14621968, essv14621967, essv14621966
SamplesHG02727, NA12762, HG02219
Known GenesEIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630994
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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