A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5964997



Internal ID8942400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127870847..127871758hg38UCSC Ensembl
chr9:130633126..130634037hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663612
Supporting Variants
SamplesNA19256
Known GenesAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5964997
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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