A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749971



Internal ID10330941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:85513768..85515977hg38UCSC Ensembl
Outerchr15:86056999..86059208hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg382210
hg192210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888333, essv6738210, essv6820226, essv6803804, essv6895041, essv6809598, essv6779890, essv6772510, essv6741460, essv6691962, essv6945446, essv6871066, essv6747166, essv6696019, essv6709851, essv6867722, essv6828139, essv6846282, essv6688636, essv6665370, essv6857908, essv6800673, essv6761290, essv6706592, essv6862932, essv6728723, essv6879801, essv6812540
SamplesSSM036, SSM046, SSM065, SSM087, SSM009, SSM073, SSM093, SSM050, SSM088, SSM041, SSM023, SSM090, SSM061, SSM029, SSM096, SSM089, SSM035, SSM067, SSM085, SSM040, SSM072, SSM078, SSM080, SSM037, SSM076, SSM055, SSM052, SSM098
Known GenesAKAP13
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)esv2749971
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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