A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736821



Internal ID10320457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:29604454..29605275hg38UCSC Ensembl
Outerchr8:29461970..29462791hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708961, essv6795334, essv6958101, essv6760504, essv6923662, essv6908222, essv6850143, essv6737424, essv6944171, essv6860420, essv6814881, essv6727719, essv6975932, essv6720064
SamplesSSM071, SSM046, SSM011, SSM050, SSM041, SSM023, SSM018, SSM061, SSM029, SSM026, SSM044, SSM014, SSM086, SSM077
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)esv2736821
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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