A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847008



Internal ID9899104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12838196..12838507hg38UCSC Ensembl
Outerchr1:12898049..12898360hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743897, esv2743864, esv2743875, esv2743886, esv2743908, esv2743853
Supporting Variants
SamplesSSM086
Known Genes
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)essv6847008
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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