A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659869



Internal ID9925974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173003165..173011650hg38UCSC Ensembl
chr5:172430168..172438653hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388486
hg198486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639632, essv5993187, essv5982175, essv6438926, essv6005418, essv6010701
SamplesNA18561, HG00590, NA18535, HG00580, HG00672, HG00472
Known GenesATP6V0E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659869
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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