A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735596



Internal ID10319232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155891864..155892909hg38UCSC Ensembl
Outerchr7:155684558..155685603hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1141e201
Supporting Variantsessv6845296, essv6957683, essv6908005, essv6964618, essv6743447, essv6858776, essv6826835, essv6818700, essv6799302, essv6795092, essv6855829, essv6734633, essv6876047, essv6890571, essv6751907, essv6826834, essv6866099, essv6861369, essv6964386, essv6708783, essv6890570, essv6811646, essv6849774, essv6684358, essv6975518, essv6808746, essv6904101, essv6891377, essv6749039, essv6706287, essv6671730, essv6705417, essv6757664
SamplesSSM059, SSM071, SSM027, SSM075, SSM011, SSM087, SSM097, SSM013, SSM088, SSM041, SSM057, SSM092, SSM029, SSM026, SSM089, SSM031, SSM014, SSM086, SSM006, SSM085, SSM040, SSM072, SSM078, SSM053, SSM080, SSM076, SSM034, SSM004, SSM049, SSM056, 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)esv2735596
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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