A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5865180



Internal ID8842583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104767909..104773038hg38UCSC Ensembl
Outerchr9:104767872..104773088hg38UCSC Ensembl
Innerchr9:107530190..107535319hg19UCSC Ensembl
Outerchr9:107530153..107535369hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385217
hg195217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666191
Supporting Variants
SamplesNA11893
Known GenesNIPSNAP3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5865180
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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