A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12143380



Internal ID5108153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177618749..177662819hg38UCSC Ensembl
chr5:177045750..177089820hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3844071
hg1944071
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607690
Supporting Variants
SamplesNA18558
Known GenesLOC202181
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12143380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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