A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6415136



Internal ID8972743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111525069..111530575hg38UCSC Ensembl
Outerchr3:111524698..111530945hg38UCSC Ensembl
Innerchr3:111243916..111249422hg19UCSC Ensembl
Outerchr3:111243545..111249792hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669248
Supporting Variants
SamplesHG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6415136
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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