A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804417



Internal ID10207757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43391796..43392116hg38UCSC Ensembl
Outerchr1:43857467..43857787hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747586
Supporting Variants
SamplesSSM074
Known GenesSZT2
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)essv6804417
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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