A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606596



Internal ID6993531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123074776..123077245hg38UCSC Ensembl
Innerchr5:123074819..123077202hg38UCSC Ensembl
Outerchr5:123074733..123077288hg38UCSC Ensembl
chr5:122410471..122412940hg19UCSC Ensembl
Innerchr5:122410514..122412897hg19UCSC Ensembl
Outerchr5:122410428..122412983hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382470
hg192470
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12042911
SamplesHG02178
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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