A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657001



Internal ID9923106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133393786..133397280hg38UCSC Ensembl
Outerchr9:133393633..133397447hg38UCSC Ensembl
Innerchr9:136258913..136262407hg19UCSC Ensembl
Outerchr9:136258756..136262574hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg383815
hg193819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5419828, essv6188255
SamplesNA18616, HG00436
Known GenesC9orf96
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657001
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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