A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607427



Internal ID6994361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162396175..162400805hg38UCSC Ensembl
Innerchr5:162396175..162400805hg38UCSC Ensembl
Outerchr5:162396027..162400936hg38UCSC Ensembl
chr5:161823181..161827811hg19UCSC Ensembl
Innerchr5:161823181..161827811hg19UCSC Ensembl
Outerchr5:161823033..161827942hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg384631
hg194631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12120145
SamplesNA19719
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607427
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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