A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853514



Internal ID10251645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232477890..232478631hg38UCSC Ensembl
Outerchr1:232613636..232614377hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724983
Supporting Variants
SamplesSSM087
Known GenesSIPA1L2
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)essv6853514
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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