A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714818



Internal ID9949103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92215420..92216268hg38UCSC Ensembl
Outerchr1:92680977..92681825hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738874, essv6921798, essv6954860, essv6874767, essv6729693, essv6929141, essv6853344, essv6666940, essv6906169, essv6914054, essv6946559, essv6773508, essv6910122, essv6847132
SamplesSSM024, SSM087, SSM092, SSM047, SSM018, SSM026, SSM014, SSM086, SSM066, SSM020, SSM015, SSM016, SSM052, SSM030
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2714818
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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