A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605476



Internal ID6645720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76841495..76850134hg38UCSC Ensembl
Innerchr5:76841508..76850122hg38UCSC Ensembl
Outerchr5:76841483..76850147hg38UCSC Ensembl
chr5:76137320..76145959hg19UCSC Ensembl
Innerchr5:76137333..76145947hg19UCSC Ensembl
Outerchr5:76137308..76145972hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg388640
hg198640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11946648
SamplesHG01779
Known GenesS100Z
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605476
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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