A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736696



Internal ID9971028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51553616..51554073hg38UCSC Ensembl
Outerchr10:53313376..53313833hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908549, essv6691336, essv6894386, essv6712727, essv6936329, essv6760728, essv6939998, essv6819322, essv6976580, essv6935788, essv6672655, essv6823326, essv6709243, essv6850689, essv6787445
SamplesSSM036, SSM079, SSM042, SSM041, SSM021, SSM069, SSM061, SSM029, SSM003, SSM031, SSM014, SSM086, SSM078, SSM022, SSM098
Known GenesPRKG1
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)esv2736696
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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