A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743708



Internal ID10324678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10743969..10745291hg38UCSC Ensembl
Outerchr1:10804026..10805348hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933297, essv6863949, essv6816574, essv6718843, essv6859180, essv6703858, essv6679161, essv6847004, essv6742133, essv6876732, essv6695621, essv6738805, essv6800709, essv6748287, essv6950545, essv6753490, essv6707259, essv6816676, essv6843878, essv6769510, essv6925685, essv6666890, essv6921709, essv6761848, essv6747768, essv6961543, essv6744928, essv6735972, essv6910034, essv6906092, essv6807366, essv6733475, essv6839963, essv6784521, essv6764155, essv6750590, essv6853228, essv6972330, essv6874698, essv6759037, essv6756546, essv6773434
SamplesSSM059, SSM008, SSM027, SSM075, SSM065, SSM087, SSM009, SSM050, SSM088, SSM002, SSM041, SSM057, SSM058, SSM092, SSM084, SSM021, SSM018, SSM061, SSM029, SSM062, SSM089, SSM019, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM040, SSM007, SSM015, SSM078, SSM053, SSM010, SSM055, SSM025, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCASZ1
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)esv2743708
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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