A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726847



Internal ID9961155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2442737..2443166hg38UCSC Ensembl
Outerchr4:2444464..2444893hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv806e201
Supporting Variantsessv6770255, essv6922507, essv6711291, essv6955992, essv6804980, essv6785786, essv6968726, essv6840681, essv6918176, essv6670134, essv6829656, essv6850187, essv6962721, essv6798234
SamplesSSM027, SSM011, SSM065, SSM074, SSM042, SSM028, SSM084, SSM018, SSM069, SSM026, SSM017, SSM031, SSM081, SSM072
Known GenesLOC402160
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)esv2726847
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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