A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725224



Internal ID10308860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45726842..45727195hg38UCSC Ensembl
Outerchr3:45768334..45768687hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669860, essv6785592, essv6955704, essv6847905, essv6973401, essv6854076, essv6683297, essv6864651, essv6675734, essv6673143, essv6889491, essv6804839, essv6726383, essv6859863, essv6773950, essv6825582, essv6730133, essv6829507, essv6947059, essv6899050, essv6896223, essv6878052, essv6906689
SamplesSSM100, SSM024, SSM046, SSM087, SSM097, SSM093, SSM074, SSM088, SSM047, SSM069, SSM029, SSM026, SSM089, SSM032, SSM031, SSM014, SSM086, SSM066, SSM081, SSM005, SSM080, SSM034, SSM099
Known GenesSACM1L
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)esv2725224
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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