A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731980



Internal ID10315616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41896929..41897651hg38UCSC Ensembl
Outerchr6:41864667..41865389hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760041, essv6739978, essv6736963, essv6951915, essv6762650, essv6954483, essv6751602, essv6728954, essv6745939, essv6678799, essv6890932, essv6680403, essv6934731, essv6818227, essv6844963, essv6918842
SamplesSSM050, SSM002, SSM057, SSM021, SSM061, SSM062, SSM017, SSM001, SSM033, SSM085, SSM007, SSM078, SSM005, SSM055, SSM025, 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)esv2731980
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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