A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732297



Internal ID10315933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73711487..73711847hg38UCSC Ensembl
Outerchr6:74421210..74421570hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694198, essv6907616, essv6814366, essv6822483, essv6969422, essv6671167, essv6805474, essv6923119, essv6899745, essv6855599, essv6957071, essv6947847, essv6676619, essv6855296, essv6943481, essv6684025, essv6957817, essv6893598, essv6888321, essv6767584, essv6930482, essv6687286, essv6786447, essv6679132, essv6878657, essv6833825, essv6860921, essv6903765, essv6802603, essv6811359, essv6715580, essv6887045, essv6869792, essv6727160, essv6705073, essv6818278, essv6794696, essv6701127, essv6951954, essv6915115, essv6929085, essv6782258, essv6963797, essv6974854, essv6893573, essv6845002
SamplesSSM100, SSM071, SSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM087, SSM039, SSM013, SSM073, SSM093, SSM074, SSM088, SSM002, SSM023, SSM028, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM035, SSM032, SSM003, SSM031, SSM001, SSM014, SSM085, SSM068, SSM040, SSM082, SSM020, SSM078, SSM016, SSM005, SSM037, SSM077, SSM076, SSM025, SSM034, SSM043, SSM098, SSM012
Known GenesCD109
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)esv2732297
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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