A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738327



Internal ID10321963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:27709962..27710389hg38UCSC Ensembl
Outerchr9:27709960..27710387hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838155, essv6734621, essv6727844, essv6760611, essv6701908, essv6881969, essv6897280, essv6705759, essv6677314, essv6749304, essv6724000, essv6778962, essv6765467, essv6931287, essv6734862, essv6861609, essv6894211, essv6934774, essv6775246, essv6712555, essv6752191, essv6743662, essv6787225, essv6856401, essv6672328, essv6894554
SamplesSSM083, SSM045, SSM046, SSM011, SSM087, SSM039, SSM042, SSM057, SSM069, SSM061, SSM094, SSM032, SSM003, SSM031, SSM067, SSM066, SSM040, SSM020, SSM007, SSM053, SSM099, SSM098, SSM049, SSM056, SSM063, 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)esv2738327
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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