A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641310



Internal ID6681395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77269394..77276527hg38UCSC Ensembl
Innerchr17:77269394..77276527hg38UCSC Ensembl
Outerchr17:77268894..77277027hg38UCSC Ensembl
chr17:75265476..75272609hg19UCSC Ensembl
Innerchr17:75265476..75272609hg19UCSC Ensembl
Outerchr17:75264976..75273109hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg387134
hg197134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15746039, essv15746051, essv15746054, essv15746046, essv15746057, essv15746038, essv15746037, essv15746055, essv15746041, essv15746042, essv15746049, essv15746053, essv15746045, essv15746050, essv15746047, essv15746043, essv15746048, essv15746040, essv15746058, essv15746052, essv15746044, essv15746036, essv15746056
SamplesNA20588, HG00235, HG00231, NA20766, HG04229, HG00341, NA12341, HG02485, HG01168, NA19651, HG02573, NA19725, HG01200, HG04146, HG02345, NA20832, HG01791, HG01101, HG01190, NA20807, NA07056, HG01509, HG01507
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641310
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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