A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816829



Internal ID9875532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236715155..236715225hg38UCSC Ensembl
Outerchr1:236878455..236878525hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725562
Supporting Variants
SamplesSSM078
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)essv6816829
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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