A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639687



Internal ID7026465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1483958..1490433hg38UCSC Ensembl
Innerchr17:1483958..1490433hg38UCSC Ensembl
Outerchr17:1483728..1490711hg38UCSC Ensembl
chr17:1387252..1393727hg19UCSC Ensembl
Innerchr17:1387252..1393727hg19UCSC Ensembl
Outerchr17:1387022..1394005hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386476
hg196476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15580909
SamplesNA18637
Known GenesMYO1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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