A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745091



Internal ID9809027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236714927..236715227hg38UCSC Ensembl
Outerchr1:236878227..236878527hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741411
Supporting Variants
SamplesSSM055
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)essv6745091
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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