A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606208



Internal ID6993144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108468733..108476021hg38UCSC Ensembl
Innerchr5:108468752..108476003hg38UCSC Ensembl
Outerchr5:108468715..108476040hg38UCSC Ensembl
chr5:107804434..107811722hg19UCSC Ensembl
Innerchr5:107804453..107811704hg19UCSC Ensembl
Outerchr5:107804416..107811741hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg387289
hg197289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12014635, essv12014639, essv12014637, essv12014638, essv12014634, essv12014640, essv12014636
SamplesHG04210, HG02786, HG03826, NA20856, HG03869, NA20847, HG03872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606208
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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