A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726326



Internal ID10309962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185793944..185794612hg38UCSC Ensembl
Outerchr3:185511732..185512400hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829603, essv6903134, essv6889592, essv6821812, essv6781569, essv6955894, essv6704419, essv6802103, essv6906813, essv6840608, essv6942587, essv6730249, essv6718775, essv6770189, essv6726480, essv6736492, essv6896307, essv6700368, essv6860014, essv6689853, essv6854260, essv6817390, essv6670053, essv6882475
SamplesSSM036, SSM046, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM050, SSM088, SSM023, SSM084, SSM047, SSM026, SSM031, SSM044, SSM014, SSM068, SSM081, SSM040, SSM078, SSM099, SSM012
Known GenesIGF2BP2
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)esv2726326
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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