A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692751



Internal ID9763964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7902947..7903269hg38UCSC Ensembl
Outerchr1:7963007..7963329hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743361
Supporting Variants
SamplesSSM037
Known Genes
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)essv6692751
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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