A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844166



Internal ID10009835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58981048..58981232hg38UCSC Ensembl
Outerchr1:59446720..59446904hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748841, esv2748852, esv2748830
Supporting Variants
SamplesSSM011
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)essv6844166
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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