A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721015



Internal ID10304651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157862480..157862876hg38UCSC Ensembl
Outerchr2:158718992..158719388hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773829, essv6722391, essv6886280, essv6922166, essv6700056, essv6675595, essv6704208, essv6781316, essv6902911, essv6807690, essv6847521, essv6683173, essv6864457, essv6693226, essv6906526, essv6892686, essv6686491, essv6825418, essv6797891, essv6810624, essv6669631, essv6726252, essv6710981, essv6844219, essv6730010, essv6689645, essv6926042, essv6896126, essv6920285, essv6817060, essv6853855, essv6973105, essv6962208, essv6832966, essv6859669, essv6847668, essv6955445
SamplesSSM036, SSM027, SSM075, SSM045, SSM046, SSM011, SSM087, SSM039, SSM013, SSM042, SSM088, SSM047, SSM018, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM014, SSM086, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM078, SSM080, SSM037, SSM076, SSM034, SSM099, SSM098
Known GenesACVR1
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)esv2721015
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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