A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606846



Internal ID6993781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134338156..134339304hg38UCSC Ensembl
Innerchr5:134338162..134339298hg38UCSC Ensembl
Outerchr5:134338150..134339310hg38UCSC Ensembl
chr5:133673847..133674995hg19UCSC Ensembl
Innerchr5:133673853..133674989hg19UCSC Ensembl
Outerchr5:133673841..133675001hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12066552
SamplesHG02271
Known GenesCDKL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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