A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449396



Internal ID15296345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73695818..73697216hg38UCSC Ensembl
Innerchr17:73696216..73696818hg38UCSC Ensembl
Outerchr17:73694818..73698216hg38UCSC Ensembl
chr17:71691957..71693355hg19UCSC Ensembl
Innerchr17:71692355..71692957hg19UCSC Ensembl
Outerchr17:71690957..71694355hg19UCSC Ensembl
chr17:69203552..69204950hg18UCSC Ensembl
Innerchr17:69204552..69203950hg18UCSC Ensembl
Outerchr17:69202552..69205950hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1811e59
Supporting Variantsessv8691004
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449396
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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