A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597405



Internal ID6972251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112059667..112102094hg38UCSC Ensembl
chr3:111778514..111820941hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842428
hg1942428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919e214
Supporting Variantsessv11103861, essv11103860, essv11103859
SamplesHG02058, NA19461, NA19436
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597405
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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