A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750218



Internal ID9984502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:78620160..78620583hg38UCSC Ensembl
Outerchr1:79085845..79086268hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902587
SamplesSSM013
Known GenesIFI44L
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)esv2750218
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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