A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606728



Internal ID6993663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128560191..128569006hg38UCSC Ensembl
Innerchr5:128560239..128568958hg38UCSC Ensembl
Outerchr5:128560143..128569054hg38UCSC Ensembl
chr5:127895884..127904699hg19UCSC Ensembl
Innerchr5:127895932..127904651hg19UCSC Ensembl
Outerchr5:127895836..127904747hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg388816
hg198816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12060976
SamplesNA12828
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606728
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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