A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900542



Internal ID9947528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49737747..49739316hg38UCSC Ensembl
Outerchr11:49759299..49760868hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744504, esv2744485
Supporting Variants
SamplesSSM100
Known GenesLOC440040
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)essv6900542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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