A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916918



Internal ID9986730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32750671..32751021hg38UCSC Ensembl
Outerchr1:33216272..33216622hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746552
Supporting Variants
SamplesSSM003
Known GenesKIAA1522
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)essv6916918
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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