A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746563



Internal ID10327533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32752707..32753387hg38UCSC Ensembl
Outerchr1:33218308..33218988hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744956
SamplesSSM055
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)esv2746563
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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