A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727366



Internal ID10311002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:32071231..32071778hg38UCSC Ensembl
Outerchr4:32072853..32073400hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715003, essv6840724, essv6670207, essv6777665, essv6929902, essv6711337, essv6722745, essv6700456, essv6667268, essv6973788
SamplesSSM045, SSM039, SSM042, SSM084, SSM029, SSM031, SSM067, SSM020, SSM043, SSM030
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)esv2727366
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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