A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606933



Internal ID6993868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139030437..139037266hg38UCSC Ensembl
Innerchr5:139030461..139037243hg38UCSC Ensembl
Outerchr5:139030414..139037290hg38UCSC Ensembl
chr5:138366126..138372955hg19UCSC Ensembl
Innerchr5:138366150..138372932hg19UCSC Ensembl
Outerchr5:138366103..138372979hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386830
hg196830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075913
SamplesNA07347
Known GenesSIL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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