A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785007



Internal ID10189989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30649839..30651536hg38UCSC Ensembl
Outerchr1:31122686..31124383hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746097, esv2746007
Supporting Variants
SamplesSSM069
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)essv6785007
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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