A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747711



Internal ID10328681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80104156..80104503hg38UCSC Ensembl
Outerchr13:80678291..80678638hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857496, essv6909862, essv6977566, essv6677994, essv6909059, essv6851495, essv6698886, essv6888137, essv6768647, essv6971021, essv6806518, essv6870858, essv6800403, essv6775869, essv6959571, essv6862606, essv6945147, essv6673448, essv6932052, essv6720865, essv6823818, essv6732312, essv6885201, essv6835046, essv6916298, essv6831492, essv6688433, essv6716983, essv6685236, essv6827911, essv6897781, essv6966102, essv6900761
SamplesSSM100, SSM027, SSM064, SSM079, SSM087, SSM038, SSM074, SSM088, SSM002, SSM023, SSM028, SSM090, SSM047, SSM029, SSM096, SSM026, SSM035, SSM032, SSM031, SSM044, SSM014, SSM086, SSM066, SSM081, SSM072, SSM082, SSM020, SSM016, SSM080, SSM095, SSM034, SSM099, SSM043
Known Genes
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)esv2747711
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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