A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727234



Internal ID10310870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16942607..16949118hg38UCSC Ensembl
Outerchr4:16944230..16950741hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg386512
hg196512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810861, essv6929889, essv6697527, essv6805002, essv6739469, essv6860102, essv6906878, essv6667259, essv6759606, essv6790754, essv6798270, essv6968767, essv6675939, essv6956051, essv6951358, essv6777650, essv6822032, essv6689926, essv6751175, essv6896368, essv6914262, essv6886537, essv6875272, essv6674510, essv6889653, essv6704497
SamplesSSM036, SSM038, SSM097, SSM009, SSM074, SSM088, SSM057, SSM028, SSM092, SSM061, SSM096, SSM026, SSM032, SSM067, SSM001, SSM014, SSM040, SSM072, SSM020, SSM005, SSM076, SSM010, SSM025, SSM099, 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)esv2727234
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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