A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606851



Internal ID6993786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134664915..134669310hg38UCSC Ensembl
Innerchr5:134664965..134669260hg38UCSC Ensembl
Outerchr5:134664857..134669368hg38UCSC Ensembl
chr5:134000605..134005000hg19UCSC Ensembl
Innerchr5:134000655..134004950hg19UCSC Ensembl
Outerchr5:134000547..134005058hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384396
hg194396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12067103
SamplesNA19072
Known GenesSEC24A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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