A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865477



Internal ID12971162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45261917..45261930hg38UCSC Ensembl
Innerchr11:45261893..45261954hg38UCSC Ensembl
Outerchr11:45261880..45261967hg38UCSC Ensembl
chr11:45283468..45283481hg19UCSC Ensembl
Innerchr11:45283444..45283505hg19UCSC Ensembl
Outerchr11:45283431..45283518hg19UCSC Ensembl
chr11:45240044..45240057hg18UCSC Ensembl
Innerchr11:45240081..45240020hg18UCSC Ensembl
Outerchr11:45240007..45240094hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388585
Supporting Variants
SamplesNA12005
Known GenesSYT13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865477
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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