A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679352



Internal ID10095715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228173943..228174606hg38UCSC Ensembl
Outerchr1:228361644..228362307hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724262
Supporting Variants
SamplesSSM033
Known GenesIBA57
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)essv6679352
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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