A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14596819



Internal ID4598635
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630634
Supporting Variants
SamplesNA18645
Known GenesEID3, TXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14596819
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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