A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745094



Internal ID9979378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114526200..114526849hg38UCSC Ensembl
Outerchr11:114396922..114397571hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760918, essv6851063, essv6936045, essv6749619, essv6912522, essv6927863, essv6752517, essv6959149, essv6741010, essv6746789, essv6737732, essv6755484, essv6698707, essv6857095
SamplesSSM007, SSM086, SSM055, SSM061, SSM057, SSM056, SSM021, SSM087, SSM038, SSM019, SSM052, SSM015, SSM026, SSM058
Known GenesNXPE1
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)esv2745094
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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