A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731996



Internal ID10315632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43417823..43418575hg38UCSC Ensembl
Outerchr6:43385561..43386313hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671115, essv6715540, essv6855239, essv6818230, essv6875736, essv6855288, essv6751604, essv6757404, essv6974791, essv6739980, essv6963746, essv6887023, essv6745941, essv6754552, essv6760047, essv6887977, essv6934736, essv6736966, essv6748757, essv6860881, essv6770842, essv6849143, essv6915090, essv6837444
SamplesSSM059, SSM083, SSM027, SSM011, SSM065, SSM087, SSM050, SSM088, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM096, SSM031, SSM086, SSM078, SSM016, SSM055, SSM043, SSM052, 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)esv2731996
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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