A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606913



Internal ID6647155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137856857..138124533hg38UCSC Ensembl
Innerchr5:137857007..138124383hg38UCSC Ensembl
Outerchr5:137856707..138124683hg38UCSC Ensembl
chr5:137192546..137460222hg19UCSC Ensembl
Innerchr5:137192696..137460072hg19UCSC Ensembl
Outerchr5:137192396..137460372hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38267677
hg19267677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075669
SamplesHG00513
Known GenesFAM13B, MYOT, NME5, PKD2L2, WNT8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606913
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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