A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640291



Internal ID7027066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416039..27423901hg38UCSC Ensembl
Innerchr17:27416041..27423900hg38UCSC Ensembl
Outerchr17:27416038..27423903hg38UCSC Ensembl
chr17:25743065..25750927hg19UCSC Ensembl
Innerchr17:25743067..25750926hg19UCSC Ensembl
Outerchr17:25743064..25750929hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387863
hg197863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15653835, essv15653840, essv15653827, essv15653830, essv15653822, essv15653837, essv15653823, essv15653831, essv15653842, essv15653825, essv15653826, essv15653838, essv15653834, essv15653828, essv15653843, essv15653832, essv15653821, essv15653833, essv15653824, essv15653829, essv15653836, essv15653839, essv15653820, essv15653841
SamplesHG03558, HG03130, NA19374, NA19171, NA18923, HG01492, NA19200, HG03343, NA19210, NA19437, NA18871, NA18856, HG02923, NA19439, HG03419, HG03103, NA19248, HG03112, HG03279, NA19185, NA18505, NA19312, NA19214, HG03196
Known GenesTBC1D3P5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640291
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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