A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307703



Internal ID14807965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49295430..49295431hg38UCSC Ensembl
Innerchr17:49295408..49295453hg38UCSC Ensembl
Outerchr17:49295407..49295454hg38UCSC Ensembl
chr17:47372792..47372793hg19UCSC Ensembl
Innerchr17:47372770..47372815hg19UCSC Ensembl
Outerchr17:47372769..47372816hg19UCSC Ensembl
chr17:44727791..44727792hg18UCSC Ensembl
Innerchr17:44727814..44727769hg18UCSC Ensembl
Outerchr17:44727768..44727815hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38223
hg19223
hg18223
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766180, essv7765858, essv7765549, essv7766930
SamplesNA18969, NA12249, NA11881, NA12873
Known GenesZNF652
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307703
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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