A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659139



Internal ID9578558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33626374..33626622hg38UCSC Ensembl
Outerchr5:33626337..33626672hg38UCSC Ensembl
Innerchr5:33626479..33626727hg19UCSC Ensembl
Outerchr5:33626442..33626777hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5509708
SamplesHG00159
Known GenesADAMTS12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659139
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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