A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914166



Internal ID9678463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247991193..247992282hg38UCSC Ensembl
Outerchr1:248154495..248155584hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381090
hg191090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727940, esv2727973, esv2727951, esv2727962, esv2727929
Supporting Variants
SamplesSSM016
Known GenesOR2L13
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)essv6914166
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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