A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819229



Internal ID10218912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1010996..1011214hg38UCSC Ensembl
Outerchr10:1056936..1057154hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729295, esv2729251
Supporting Variants
SamplesSSM078
Known GenesGTPBP4
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)essv6819229
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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