A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747463



Internal ID9981747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41528321..41528613hg38UCSC Ensembl
Outerchr1:41993992..41994284hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880436, essv6863985, essv6840001, essv6836212, essv6668992, essv6686169, essv6910076, essv6929097, essv6780904, essv6946520
SamplesSSM084, SSM089, SSM031, SSM035, SSM020, SSM024, SSM094, SSM083, SSM068, SSM015
Known GenesHIVEP3
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)esv2747463
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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