A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436611



Internal ID15283564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64891472..64896770hg38UCSC Ensembl
Innerchr17:64892472..64895770hg38UCSC Ensembl
Outerchr17:64890472..64897770hg38UCSC Ensembl
chr17:62887590..62892888hg19UCSC Ensembl
Innerchr17:62888590..62891888hg19UCSC Ensembl
Outerchr17:62886590..62893888hg19UCSC Ensembl
chr17:60318052..60323350hg18UCSC Ensembl
Innerchr17:60319052..60322350hg18UCSC Ensembl
Outerchr17:60317052..60324350hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg385299
hg195299
hg185299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690976
SamplesNA12892
Known GenesLRRC37A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436611
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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