A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889103



Internal ID10283674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150718983..150719278hg38UCSC Ensembl
Outerchr1:150691459..150691754hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717807
Supporting Variants
SamplesSSM097
Known GenesHORMAD1
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)essv6889103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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