A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726821



Internal ID10310457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1566599..1566803hg38UCSC Ensembl
Outerchr4:1568326..1568530hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947222, essv6872275, essv6675911, essv6670129, essv6955984, essv6962712, essv6810842, essv6973704, essv6906857, essv6722695, essv6804979
SamplesSSM027, SSM024, SSM045, SSM074, SSM029, SSM026, SSM032, SSM031, SSM014, SSM076, SSM091
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)esv2726821
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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