A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748674



Internal ID9982958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56776931..56777267hg38UCSC Ensembl
Outerchr1:57242604..57242940hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821218, essv6886005, essv6785032, essv6718193, essv6789196, essv6697014, essv6892352, essv6937720, essv6954805, essv6859229, essv6844120, essv6793330, essv6836222, essv6946532, essv6863996, essv6889035, essv6810366, essv6675235, essv6902576, essv6880448, essv6816623, essv6714283, essv6906126, essv6703894, essv6682856, essv6825016, essv6853291, essv6972424, essv6710629, essv6807403, essv6898632, essv6669003, essv6692818, essv6883282, essv6847079, essv6895872, essv6961621, essv6832631
SamplesSSM022, SSM027, SSM013, SSM082, SSM086, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM031, SSM071, SSM032, SSM024, SSM094, SSM083, SSM097, SSM100, SSM011, SSM029, SSM095, SSM069, SSM037, SSM034, SSM087, SSM038, SSM096, SSM079, SSM044, SSM075, SSM026, SSM014, SSM098, SSM076, SSM070, SSM080
Known GenesC1orf168
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)esv2748674
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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