A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358048



Internal ID14858310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130854323..130854335hg38UCSC Ensembl
Innerchr6:130854317..130854339hg38UCSC Ensembl
Outerchr6:130854305..130854353hg38UCSC Ensembl
chr6:131175463..131175475hg19UCSC Ensembl
Innerchr6:131175457..131175479hg19UCSC Ensembl
Outerchr6:131175445..131175493hg19UCSC Ensembl
chr6:131217156..131217168hg18UCSC Ensembl
Innerchr6:131217172..131217150hg18UCSC Ensembl
Outerchr6:131217138..131217186hg18UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8933097, essv8933101, essv8933104, essv8933111, essv8933112, essv8933100, essv8933098, essv8933096, essv8933107, essv8933105, essv8933103, essv8933109, essv8933110, essv8933106, essv8933099, essv8933108
SamplesNA12717, NA11995, NA10851, NA12045, NA12751, NA12828, NA18638, NA12003, NA18572, NA12144, NA12043, NA18608, NA11881, NA07037, NA06986, NA12749
Known GenesEPB41L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358048
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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