A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675243



Internal ID10091960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65613438..65613765hg38UCSC Ensembl
Outerchr1:66079121..66079448hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749252
Supporting Variants
SamplesSSM032
Known GenesLEPR
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)essv6675243
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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