A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749408



Internal ID10330378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67158364..67159399hg38UCSC Ensembl
Outerchr1:67624047..67625082hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874743, essv6744981, essv6933352, essv6817076, essv6736012, essv6773485, essv6910098, essv6719231, essv6747824, essv6877231, essv6972437, essv6816634, essv6804598, essv6785020, essv6696054, essv6756586, essv6769571, essv6759091, essv6733522, essv6961637, essv6761882, essv6738853, essv6753538, essv6750644, essv6748987, essv6906135
SamplesSSM059, SSM008, SSM027, SSM065, SSM009, SSM050, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM062, SSM014, SSM066, SSM006, SSM007, SSM015, SSM078, SSM010, SSM055, SSM052, SSM049, SSM056, SSM012
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)esv2749408
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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