A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607237



Internal ID6994171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153986494..153990216hg38UCSC Ensembl
Innerchr5:153986494..153990216hg38UCSC Ensembl
Outerchr5:153986385..153990353hg38UCSC Ensembl
chr5:153366054..153369776hg19UCSC Ensembl
Innerchr5:153366054..153369776hg19UCSC Ensembl
Outerchr5:153365945..153369913hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383723
hg193723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12104264, essv12104263
SamplesHG00654, HG00656
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607237
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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