A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736862



Internal ID9971195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302250..52302356hg38UCSC Ensembl
Outerchr10:54062010..54062116hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e201
Supporting Variantsessv6862003, essv6856714
SamplesSSM087, SSM088
Known GenesPRKG1-AS1
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)esv2736862
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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