A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv592e214



Internal ID22756486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38683..87399hg38UCSC Ensembl
chr18:38683..87399hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3848717
hg1948717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3641459, esv3641461
SamplesHG00592, HG02026, HG02017, HG02895, HG00622, NA19068, HG02840, NA18547, HG01519, HG02887, HG02390, HG02522, HG02014, NA18573, NA18946, NA19761, NA19009, NA18555, NA18531, NA18543, NA18591, HG00614, HG02116, HG02113, NA18983, HG00595, NA19004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv592e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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