A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865978



Internal ID13318161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47772211..47772224hg38UCSC Ensembl
Innerchr17:47772213..47772222hg38UCSC Ensembl
Outerchr17:47772209..47772226hg38UCSC Ensembl
chr17:45849577..45849590hg19UCSC Ensembl
Innerchr17:45849579..45849588hg19UCSC Ensembl
Outerchr17:45849575..45849592hg19UCSC Ensembl
chr17:43204576..43204589hg18UCSC Ensembl
Innerchr17:43204578..43204587hg18UCSC Ensembl
Outerchr17:43204574..43204591hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381034
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865978
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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