A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677076



Internal ID9943181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124294365..124295831hg38UCSC Ensembl
chr9:127056644..127058110hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381467
hg191467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6071811, essv6176387
SamplesNA19681, NA18605
Known GenesNEK6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677076
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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