A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639918



Internal ID7026696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9543243..9552955hg38UCSC Ensembl
Innerchr17:9543743..9552455hg38UCSC Ensembl
Outerchr17:9542243..9553955hg38UCSC Ensembl
chr17:9446560..9456272hg19UCSC Ensembl
Innerchr17:9447060..9455772hg19UCSC Ensembl
Outerchr17:9445560..9457272hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg389713
hg199713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15610345, essv15610346
SamplesNA19454, NA19312
Known GenesSTX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639918
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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