A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815223



Internal ID9870496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102869412..102869588hg38UCSC Ensembl
Outerchr10:104629169..104629345hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740239
Supporting Variants
SamplesSSM077
Known GenesAS3MT, C10orf32-ASMT
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)essv6815223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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