A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735229



Internal ID9969559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139057508..139057871hg38UCSC Ensembl
Outerchr7:138742254..138742617hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808703, essv6930830, essv6719789, essv6899986, essv6939388, essv6795036, essv6774894, essv6897024, essv6681454, essv6771166, essv6890526, essv6799239, essv6876007, essv6694588, essv6680728, essv6964310, essv6834113, essv6708737, essv6727474, essv6826774, essv6907955, essv6802836, essv6676931, essv6805739, essv6687564, essv6858309, essv6866028, essv6873053, essv6811602, essv6884499, essv6786778, essv6698146, essv6837784, essv6830512, essv6855768, essv6957611, essv6715864, essv6778560, essv6723582, essv6705360, essv6822779, essv6731222, essv6814651, essv6671672, essv6861313, essv6790883, essv6818653, essv6712180, essv6881694, essv6684322, essv6849702, essv6943837
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM092, SSM047, SSM069, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM020, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM034, SSM099, SSM043
Known GenesZC3HAV1
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)esv2735229
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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