A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6002514



Internal ID8979917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69122000..69130306hg38UCSC Ensembl
Outerchr9:69121629..69130676hg38UCSC Ensembl
Innerchr9:71736916..71745222hg19UCSC Ensembl
Outerchr9:71736545..71745592hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg389048
hg199048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677043
Supporting Variants
SamplesHG00611
Known GenesTJP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6002514
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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