A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721155



Internal ID9955451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174225901..174226210hg38UCSC Ensembl
Outerchr2:175090629..175090938hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825438, essv6847693, essv6877969, essv6683189, essv6906543, essv6962231, essv6836592, essv6793735, essv6853878, essv6726267, essv6817083, essv6955469, essv6859689, essv6844228, essv6847643, essv6807706, essv6686505, essv6880727, essv6810634, essv6973136, essv6669660, essv6889373, essv6700075, essv6675613, essv6864477, essv6821592, essv6797907, essv6693244
SamplesSSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM085, SSM072, SSM078, SSM080, SSM037, SSM076, SSM034
Known GenesOLA1
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)esv2721155
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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