A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607587



Internal ID6647827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172070057..172071028hg38UCSC Ensembl
Innerchr5:172070117..172070968hg38UCSC Ensembl
Outerchr5:172069997..172071088hg38UCSC Ensembl
chr5:171497061..171498032hg19UCSC Ensembl
Innerchr5:171497121..171497972hg19UCSC Ensembl
Outerchr5:171497001..171498092hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12132667
SamplesHG02102
Known GenesSTK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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