A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640901



Internal ID7027675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59032173..59041164hg38UCSC Ensembl
Innerchr17:59032673..59040664hg38UCSC Ensembl
Outerchr17:59031173..59042164hg38UCSC Ensembl
chr17:57109534..57118525hg19UCSC Ensembl
Innerchr17:57110034..57118025hg19UCSC Ensembl
Outerchr17:57108534..57119525hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388992
hg198992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15711271, essv15711257, essv15711254, essv15711263, essv15711264, essv15711259, essv15711266, essv15711267, essv15711268, essv15711272, essv15711261, essv15711265, essv15711262, essv15711258, essv15711255, essv15711270, essv15711253, essv15711256, essv15711269, essv15711260
SamplesHG01918, HG00608, NA18959, NA19374, NA18982, NA18942, NA19088, NA19054, NA19079, NA19002, NA18956, NA19081, NA20519, NA19059, NA18974, HG00611, NA18943, NA19060, NA18994, NA18957
Known GenesTRIM37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640901
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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