A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585931



Internal ID6973450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46272731..46296325hg38UCSC Ensembl
Innerchr1:46272881..46296175hg38UCSC Ensembl
Outerchr1:46272581..46296475hg38UCSC Ensembl
chr1:46738403..46761997hg19UCSC Ensembl
Innerchr1:46738553..46761847hg19UCSC Ensembl
Outerchr1:46738253..46762147hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3823595
hg1923595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926381
SamplesHG04146
Known GenesLRRC41, RAD54L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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