A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663612



Internal ID9929717
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 Flag
Merged StatusM
Merged Variantsdgv1377e199
Supporting Variantsessv5482166, essv5926355, essv6273187, essv6469613, essv6122749, essv6041790, essv6227056, essv5824366, essv5948115, essv5922377, essv6415368, essv5949408, essv5531177, essv6005608, essv5964997, essv5428208, essv6242806, essv5817121, essv5529016, essv6448380
SamplesNA19909, NA18861, NA19704, NA20752, NA19190, NA18563, NA19319, NA19130, NA19385, NA19471, NA18867, NA20515, NA19114, HG01101, HG01334, NA18523, NA19256, NA18501, NA19116, HG00553
Known GenesAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663612
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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