A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744991



Internal ID10325961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102600863..102601858hg38UCSC Ensembl
Outerchr11:102471594..102472589hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944844, essv6965656, essv6867034, essv6673034, essv6862286, essv6908778, essv6834814, essv6787679, essv6688217, essv6685008, essv6857077, essv6851048, essv6823556, essv6977010, essv6819602, essv6815402, essv6812164, essv6891204, essv6758173, essv6959134, essv6677734
SamplesSSM059, SSM027, SSM079, SSM087, SSM097, SSM088, SSM023, SSM069, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM082, SSM078, SSM077, SSM076, SSM034
Known GenesMMP20
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)esv2744991
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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