A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721962



Internal ID9956260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205884431..205884586hg38UCSC Ensembl
Outerchr1:205853559..205853714hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847270, essv6853471, essv6864150, essv6961796, essv6669205
SamplesSSM027, SSM086, SSM089, SSM031, SSM087
Known GenesLOC284581
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)esv2721962
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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