A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv919e214



Internal ID20122342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112059667..112102420hg38UCSC Ensembl
chr3:111778514..111821267hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842754
hg1942754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3597405, esv3597406, esv3597407
SamplesHG02058, HG02131, NA19917, NA19461, NA19436
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv919e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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