A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744665



Internal ID10325635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68717837..68718341hg38UCSC Ensembl
Outerchr11:68485305..68485809hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732020, essv6695438, essv6779349, essv6898309, essv6857032, essv6775605, essv6845872, essv6740967
SamplesSSM087, SSM047, SSM067, SSM066, SSM085, SSM037, SSM052, SSM012
Known GenesMTL5
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)esv2744665
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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