A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773629



Internal ID9833063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236713464..236714034hg38UCSC Ensembl
Outerchr1:236876764..236877334hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725496
Supporting Variants
SamplesSSM066
Known GenesACTN2
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)essv6773629
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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