A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607603



Internal ID6647843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173003167..173011646hg38UCSC Ensembl
Innerchr5:173003167..173011646hg38UCSC Ensembl
Outerchr5:173002891..173011955hg38UCSC Ensembl
chr5:172430170..172438649hg19UCSC Ensembl
Innerchr5:172430170..172438649hg19UCSC Ensembl
Outerchr5:172429894..172438958hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388480
hg198480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134048, essv12134049, essv12134047, essv12134044, essv12134046, essv12134045
SamplesNA18561, HG00590, NA18535, HG00580, HG00672, HG00472
Known GenesATP6V0E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607603
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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