A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746197



Internal ID10327167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30775739..30776800hg38UCSC Ensembl
Outerchr1:31248586..31249647hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738824, essv6742158, essv6797467, essv6885993, essv6802709, essv6816854, essv6950374, essv6961582, essv6853258, essv6686163, essv6972381, essv6821196, essv6773454, essv6843907, essv6769541, essv6675215, essv6954770, essv6916885, essv6750621
SamplesSSM027, SSM079, SSM065, SSM087, SSM002, SSM057, SSM029, SSM096, SSM026, SSM035, SSM032, SSM003, SSM066, SSM085, SSM072, SSM053, SSM010, SSM004, SSM052
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)esv2746197
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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