A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630634



Internal ID6670769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104247347..104343900hg38UCSC Ensembl
chr12:104641125..104737678hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3896554
hg1996554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596819
SamplesNA18645
Known GenesEID3, TXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630634
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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