A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807485



Internal ID9865126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179638172..179638911hg38UCSC Ensembl
Outerchr1:179607307..179608046hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719895
Supporting Variants
SamplesSSM075
Known GenesTDRD5
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)essv6807485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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