A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1377e199



Internal ID20124679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127870793..127871916hg38UCSC Ensembl
chr9:130633072..130634195hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663612, esv2669245
SamplesNA18861, NA18523, NA20752, NA19114, NA18501, NA19319, HG00553, HG01101, NA20515, NA18563, NA19471, NA19256, NA19190, NA19704, NA19909, HG01334, NA18867, NA19116, NA19130, NA19385
Known GenesAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1377e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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