A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716204



Internal ID10299840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73726270..73726944hg38UCSC Ensembl
Outerchr17:71722409..71723083hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871259, essv6776388, essv6828413, essv6898155, essv6852325, essv6665885, essv6932657, essv6909538, essv6678539, essv6928541, essv6913345, essv6699214, essv6901150, essv6812736, essv6784335, essv6949847, essv6872098, essv6858299, essv6721395, essv6729013, essv6835568, essv6941118, essv6882840, essv6912930, essv6863222, essv6877212, essv6721396, essv6832006, essv6880002, essv6732873, essv6868034, essv6806905, essv6674320, essv6960487, essv6703209, essv6801000, essv6944785, essv6820505, essv6885551, essv6688864, essv6888572, essv6966968
SamplesSSM100, SSM027, SSM024, SSM046, SSM011, SSM087, SSM038, SSM039, SSM093, SSM074, SSM088, SSM002, SSM092, SSM090, SSM047, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM080, SSM076, SSM022, SSM095, SSM099
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)esv2716204
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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