A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727365



Internal ID10311001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:32069315..32072880hg38UCSC Ensembl
Outerchr4:32070937..32074502hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383566
hg193566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742701, essv6755521, essv6715003, essv6840724, essv6670207, essv6777665, essv6929902, essv6938456, essv6923374, essv6762301, essv6711337, essv6722745, essv6755532, essv6700456, essv6667268, essv6739481, essv6973788
SamplesSSM008, SSM045, SSM039, SSM042, SSM084, SSM029, SSM062, SSM003, SSM031, SSM067, SSM020, SSM053, SSM022, SSM043, SSM052, 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)esv2727365
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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