A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640289



Internal ID7027064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27241204..27242319hg38UCSC Ensembl
Innerchr17:27241400..27242269hg38UCSC Ensembl
Outerchr17:27241062..27242461hg38UCSC Ensembl
chr17:25568230..25569345hg19UCSC Ensembl
Innerchr17:25568426..25569295hg19UCSC Ensembl
Outerchr17:25568088..25569487hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15653080, essv15653089, essv15653072, essv15653084, essv15653107, essv15653079, essv15653097, essv15653090, essv15653076, essv15653105, essv15653070, essv15653073, essv15653088, essv15653098, essv15653086, essv15653101, essv15653106, essv15653077, essv15653074, essv15653099, essv15653085, essv15653091, essv15653104, essv15653095, essv15653102, essv15653094, essv15653082, essv15653100, essv15653093, essv15653087, essv15653071, essv15653092, essv15653083, essv15653075, essv15653096, essv15653078, essv15653081, essv15653103
SamplesHG02574, NA19141, HG02583, HG03052, NA20813, HG03280, HG03518, HG03086, HG02811, NA19197, HG02922, HG02111, HG02561, HG02573, NA19235, NA20355, HG03169, NA19210, HG03202, HG01241, HG03354, NA19095, HG01363, NA19308, HG02613, NA19206, NA19144, HG02982, HG02464, HG01108, HG03108, HG02971, NA19351, NA20334, NA19213, HG03077, HG02051, NA19121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640289
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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