A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641461



Internal ID7028235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40598..87399hg38UCSC Ensembl
chr18:40598..87399hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3846802
hg1946802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv592e214
Supporting Variantsessv15771521, essv15771519, essv15771528, essv15771515, essv15771530, essv15771526, essv15771532, essv15771533, essv15771525, essv15771523, essv15771529, essv15771518, essv15771513, essv15771524, essv15771516, essv15771534, essv15771514, essv15771522, essv15771517, essv15771520, essv15771527, essv15771531
SamplesHG00592, HG02026, HG02017, HG02895, HG00622, NA19068, HG02840, NA18547, HG01519, HG02887, HG02390, HG02522, HG02014, NA18573, NA19761, NA18555, NA18531, NA18543, NA18591, HG00614, HG02116, NA18983
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641461
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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