A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607466



Internal ID6994400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163793051..163798473hg38UCSC Ensembl
Innerchr5:163793051..163798473hg38UCSC Ensembl
Outerchr5:163792749..163798812hg38UCSC Ensembl
chr5:163220057..163225479hg19UCSC Ensembl
Innerchr5:163220057..163225479hg19UCSC Ensembl
Outerchr5:163219755..163225818hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385423
hg195423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12123181, essv12123183, essv12123186, essv12123182, essv12123187, essv12123189, essv12123185, essv12123188, essv12123184
SamplesNA18530, NA19089, NA19056, HG00557, NA18537, HG02179, NA18643, HG02116, NA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607466
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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