A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720217



Internal ID9954513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184967881..184968232hg38UCSC Ensembl
Outerchr1:184937013..184937364hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821315, essv6670288, essv6797589, essv6686262, essv6807492, essv6845054, essv6889134, essv6825123, essv6847235, essv6925815, essv6810444, essv6972598, essv6669168, essv6886085, essv6864127, essv6718283, essv6898724, essv6906238, essv6883354, essv6675335, essv6853440, essv6933440, essv6703968, essv6699743, essv6954960, essv6804520, essv6859352
SamplesSSM086, SSM040, SSM088, SSM089, SSM031, SSM035, SSM072, SSM032, SSM039, SSM097, SSM005, SSM100, SSM011, SSM029, SSM095, SSM021, SSM087, SSM019, SSM096, SSM079, SSM044, SSM074, SSM075, SSM026, SSM014, SSM076, SSM080
Known GenesFAM129A
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)esv2720217
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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