A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305494



Internal ID15152442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13605521..13605522hg38UCSC Ensembl
Innerchr9:13605492..13605551hg38UCSC Ensembl
Outerchr9:13605491..13605552hg38UCSC Ensembl
chr9:13605520..13605521hg19UCSC Ensembl
Innerchr9:13605491..13605550hg19UCSC Ensembl
Outerchr9:13605490..13605551hg19UCSC Ensembl
chr9:13595520..13595521hg18UCSC Ensembl
Innerchr9:13595550..13595491hg18UCSC Ensembl
Outerchr9:13595490..13595551hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756694, essv7757583, essv7753730, essv7762742, essv7751851, essv7759388, essv7748318, essv7742747, essv7750834, essv7744992, essv7742016, essv7749864, essv7740375, essv7742345, essv7754183, essv7760891, essv7746267, essv7745706, essv7749052, essv7748868, essv7757820, essv7762453, essv7751677, essv7756578, essv7747292, essv7755271, essv7753173, essv7745797, essv7741914, essv7762019, essv7754094, essv7758664, essv7751149, essv7757256, essv7748588, essv7762488, essv7762642, essv7758000, essv7745092, essv7745203
SamplesNA18592, NA18980, NA18545, NA18959, NA18526, NA18563, NA18550, NA18519, NA18547, NA18942, NA18582, NA18571, NA18964, NA18949, NA18973, NA18638, NA18951, NA18605, NA18579, NA18572, NA18948, NA18537, NA18566, NA18573, NA18532, NA18853, NA18555, NA18570, NA18593, NA18945, NA18576, NA18608, NA18953, NA18542, NA18952, NA18943, NA18609, NA18552, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305494
Frequency
Sample Size185
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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