A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729603



Internal ID10313239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2783772..2785000hg38UCSC Ensembl
Outerchr5:2783886..2785114hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687014, essv6792599, essv6734168, essv6770527, essv6730628, essv6757201, essv6700734, essv6767297, essv6833547, essv6817840, essv6754284, essv6875473, essv6823843, essv6934409, essv6963244, essv6974251, essv6918476, essv6736740, essv6932706, essv6886791, essv6751362, essv6742901, essv6854793, essv6759793, essv6885631, essv6757821, essv6745712, essv6680152
SamplesSSM059, SSM008, SSM027, SSM064, SSM065, SSM087, SSM039, SSM009, SSM050, SSM057, SSM058, SSM092, SSM021, SSM047, SSM061, SSM029, SSM096, SSM017, SSM035, SSM001, SSM033, SSM082, SSM078, SSM053, SSM010, SSM055, SSM049, SSM012
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)esv2729603
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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