A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736900



Internal ID10320536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39374432..39529697hg38UCSC Ensembl
Outerchr8:39231951..39387216hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155266
hg19155266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791193, essv6743581, essv6667901, essv6808886, essv6707431, essv6727725, essv6691052, essv6915604, essv6893454, essv6935398, essv6958116, essv6830741, essv6834349, essv6775137
SamplesSSM036, SSM075, SSM046, SSM021, SSM026, SSM066, SSM006, SSM081, SSM082, SSM016, SSM053, SSM070, SSM030, SSM012
Known GenesADAM3A, ADAM5
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)esv2736900
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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