A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv593e214



Internal ID22756487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40598..87399hg38UCSC Ensembl
chr18:40598..87399hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3846802
hg1946802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3641462, esv3641463, esv3641464
SamplesHG03690, HG03163, HG03111, HG01815, HG02727, HG02691, HG03943, HG02491, HG02687, HG03246, NA20287, HG03868, HG02697, HG01938, HG04180, NA20901, HG03631, NA12827, HG03109, HG02484, NA18974, NA20804, HG03646, HG01583, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv593e214
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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