A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927754



Internal ID10037062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133112205..133112431hg38UCSC Ensembl
Outerchr10:134925709..134925935hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743822
Supporting Variants
SamplesSSM019
Known GenesGPR123
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)essv6927754
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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