A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721990



Internal ID10133272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5865242..5865605hg38UCSC Ensembl
Outerchr1:5925302..5925665hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737584
Supporting Variants
SamplesSSM045
Known GenesNPHP4
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)essv6721990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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