A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451701



Internal ID15298646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45620603..45624601hg38UCSC Ensembl
Innerchr17:45621603..45623601hg38UCSC Ensembl
Outerchr17:45619603..45625601hg38UCSC Ensembl
chr17:43697969..43701967hg19UCSC Ensembl
Innerchr17:43698969..43700967hg19UCSC Ensembl
Outerchr17:43696969..43702967hg19UCSC Ensembl
chr17:41053752..41057750hg18UCSC Ensembl
Innerchr17:41054752..41056750hg18UCSC Ensembl
Outerchr17:41052752..41058750hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1764e59
Supporting Variantsessv8690873
SamplesNA12878
Known GenesCRHR1, MGC57346
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451701
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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