A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737282



Internal ID10320918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:88628311..88628857hg38UCSC Ensembl
Outerchr8:89640540..89641086hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677212, essv6948458, essv6712470, essv6881900, essv6952609, essv6795385, essv6934074, essv6856246, essv6691087, essv6684570, essv6752122, essv6890770
SamplesSSM036, SSM071, SSM024, SSM087, SSM097, SSM042, SSM057, SSM094, SSM032, SSM003, SSM025, SSM034
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)esv2737282
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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