A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737330



Internal ID10320966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95824124..95824443hg38UCSC Ensembl
Outerchr8:96836352..96836671hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827086, essv6705681, essv6900190, essv6870306, essv6908272, essv6795391, essv6976025, essv6720107, essv6838060, essv6677217
SamplesSSM100, SSM083, SSM071, SSM090, SSM029, SSM032, SSM044, SSM014, SSM040, SSM080
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)esv2737330
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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