A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604763



Internal ID6991791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38165602..38201570hg38UCSC Ensembl
chr5:38165704..38201672hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3835969
hg1935969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871385, essv11871384, essv11871383
SamplesHG00542, NA12717, HG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604763
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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