A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604646



Internal ID6644896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33280396..33574577hg38UCSC Ensembl
Innerchr5:33280546..33574427hg38UCSC Ensembl
Outerchr5:33280246..33574727hg38UCSC Ensembl
chr5:33280502..33574682hg19UCSC Ensembl
Innerchr5:33280652..33574532hg19UCSC Ensembl
Outerchr5:33280352..33574832hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38294182
hg19294181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11859360
SamplesNA12717
Known GenesADAMTS12, TARS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604646
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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