A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365612



Internal ID15212589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64900172..64903370hg38UCSC Ensembl
Innerchr17:64901172..64902370hg38UCSC Ensembl
Outerchr17:64899172..64904370hg38UCSC Ensembl
chr17:62896290..62899488hg19UCSC Ensembl
Innerchr17:62897290..62898488hg19UCSC Ensembl
Outerchr17:62895290..62900488hg19UCSC Ensembl
chr17:60326752..60329950hg18UCSC Ensembl
Innerchr17:60327752..60328950hg18UCSC Ensembl
Outerchr17:60325752..60330950hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690980
SamplesNA12892
Known GenesLRRC37A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365612
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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