A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738914



Internal ID10322550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109667909..109668237hg38UCSC Ensembl
Outerchr9:112430189..112430517hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862376, essv6897337, essv6850505, essv6795594, essv6783080, essv6884809, essv6873379, essv6831820, essv6882021, essv6806062, essv6887675, essv6900324, essv6827271, essv6687948, essv6681185, essv6908438, essv6809063, essv6787311, essv6768181, essv6720286, essv6838217, essv6879202, essv6856516, essv6861855, essv6976313, essv6965066, essv6890908, essv6709151, essv6799775, essv6791403, essv6708464, essv6746517, essv6684730, essv6705822, essv6811915, essv6834515, essv6866594, essv6701991, essv6672450, essv6958495, essv6698471, essv6967917, essv6749354
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM011, SSM064, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM088, SSM041, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM031, SSM044, SSM014, SSM086, SSM033, SSM006, SSM068, SSM040, SSM072, SSM082, SSM080, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM099, SSM056
Known GenesPALM2
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)esv2738914
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer