A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722306



Internal ID10305942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210465881..210466061hg38UCSC Ensembl
Outerchr1:210639225..210639405hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853477, essv6859378, essv6766672, essv6972639, essv6720065, essv6968103, essv6954998, essv6669213, essv6773601
SamplesSSM064, SSM087, SSM088, SSM028, SSM029, SSM026, SSM031, SSM066, SSM007
Known GenesHHAT
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)esv2722306
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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