A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686621



Internal ID9647787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71599899..71899988hg38UCSC Ensembl
Outerchr11:71310945..71611034hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38300090
hg19300090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744758
Supporting Variants
SamplesSSM005
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, ZNF705E
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)essv6686621
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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