A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745292



Internal ID9979576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140602..133141473hg38UCSC Ensembl
Outerchr11:133010497..133011368hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959178, essv6977075, essv6710710, essv6749637, essv6944878, essv6724446, essv6758191, essv6717153, essv6712936, essv6834837, essv6894602, essv6752529, essv6920100, essv6970762, essv6834488, essv6876617, essv6831261, essv6768455, essv6827653, essv6931779, essv6772001, essv6681523, essv6891238, essv6857123, essv6741023, essv6791803, essv6870682
SamplesSSM010, SSM065, SSM092, SSM082, SSM006, SSM033, SSM042, SSM090, SSM064, SSM020, SSM057, SSM001, SSM045, SSM097, SSM056, SSM017, SSM029, SSM087, SSM023, SSM052, SSM004, SSM026, SSM098, SSM059, SSM081, SSM070, SSM080
Known GenesOPCML
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)esv2745292
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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