A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750107



Internal ID10331077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76774133..76774639hg38UCSC Ensembl
Outerchr1:77239818..77240324hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954838, essv6753547, essv6722051, essv6874751
SamplesSSM045, SSM058, SSM092, SSM026
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)esv2750107
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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