A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840101



Internal ID10239573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190628692..190629112hg38UCSC Ensembl
Outerchr1:190597822..190598242hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720607, esv2720618
Supporting Variants
SamplesSSM084
Known GenesLOC440704
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)essv6840101
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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