A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725761



Internal ID10309397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:109384404..109386086hg38UCSC Ensembl
Outerchr3:109103251..109104933hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848005, essv6762199, essv6933951, essv6914480, essv6886416, essv6714831, essv6704361, essv6973512, essv6804886, essv6918056, essv6875170, essv6951197, essv6785653, essv6754141, essv6764556, essv6770134, essv6700293, essv6903083, essv6693444, essv6789499, essv6679757, essv6751055, essv6892852, essv6748216, essv6906748, essv6926195, essv6922377, essv6869160, essv6699377, essv6942508, essv6947113, essv6825646, essv6697414, essv6723310, essv6686641, essv6753971
SamplesSSM008, SSM024, SSM065, SSM038, SSM039, SSM013, SSM009, SSM074, SSM057, SSM023, SSM058, SSM092, SSM090, SSM021, SSM018, SSM069, SSM029, SSM096, SSM062, SSM017, SSM019, SSM035, SSM014, SSM086, SSM033, SSM006, SSM040, SSM007, SSM016, SSM080, SSM037, SSM025, SSM043, SSM098, SSM056, SSM063
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)esv2725761
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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