A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672949



Internal ID9743819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49737749..49739335hg38UCSC Ensembl
Outerchr11:49759301..49760887hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744504, esv2744485
Supporting Variants
SamplesSSM031
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)essv6672949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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