A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338493



Internal ID14838763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478829..55478841hg38UCSC Ensembl
Innerchr18:55478820..55478847hg38UCSC Ensembl
Outerchr18:55478808..55478862hg38UCSC Ensembl
chr18:53146060..53146072hg19UCSC Ensembl
Innerchr18:53146051..53146078hg19UCSC Ensembl
Outerchr18:53146039..53146093hg19UCSC Ensembl
chr18:51297058..51297070hg18UCSC Ensembl
Innerchr18:51297076..51297049hg18UCSC Ensembl
Outerchr18:51297037..51297091hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8973742, essv8973730, essv8973752, essv8973731, essv8973739, essv8973759, essv8973732, essv8973737, essv8973763, essv8973744, essv8973745, essv8973751, essv8973770, essv8973729, essv8973746, essv8973755, essv8973757, essv8973733, essv8973738, essv8973748, essv8973753, essv8973766, essv8973760, essv8973767, essv8973728, essv8973741, essv8973765, essv8973771, essv8973749, essv8973750, essv8973734, essv8973772, essv8973762, essv8973764, essv8973735, essv8973756, essv8973761, essv8973740, essv8973727, essv8973743, essv8973754, essv8973768
SamplesNA12043, NA18951, NA18561, NA18570, NA18948, NA12828, NA18608, NA18965, NA18943, NA18912, NA18508, NA18566, NA18576, NA07357, NA18592, NA12761, NA18638, NA11831, NA18973, NA11995, NA18916, NA18593, NA12144, NA18537, NA06986, NA18564, NA18942, NA18579, NA18940, NA10851, NA18552, NA18909, NA12156, NA18577, NA11830, NA11992, NA18499, NA18571, NA12717, NA18555, NA18519, NA07000
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338493
Frequency
Sample Size185
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer