A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802832



Internal ID10003103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1010009..1010375hg38UCSC Ensembl
Outerchr10:1055949..1056315hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729239, esv2729262, esv2729251
Supporting Variants
SamplesSSM009
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)essv6802832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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