A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745239



Internal ID9979523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128584966..128585211hg38UCSC Ensembl
Outerchr11:128454861..128455106hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885043, essv6775644, essv6940272, essv6741019, essv6706159, essv6809326, essv6771331, essv6970718, essv6791801, essv6977063, essv6716729, essv6743984
SamplesSSM008, SSM075, SSM029, SSM066, SSM040, SSM053, SSM022, SSM070, SSM095, SSM004, SSM043, SSM052
Known GenesETS1
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)esv2745239
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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