A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737230



Internal ID9971566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81633446..81689714hg38UCSC Ensembl
Outerchr8:82545681..82601949hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3856269
hg1956269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976002, essv6904841, essv6763012, essv6870296, essv6727753, essv6919550, essv6707632, essv6893743, essv6970119, essv6712467, essv6948450
SamplesSSM024, SSM046, SSM042, SSM002, SSM028, SSM090, SSM029, SSM062, SSM017, SSM006, SSM012
Known GenesIMPA1
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)esv2737230
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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