A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721495



Internal ID9955791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201690078..201690529hg38UCSC Ensembl
Outerchr1:201659206..201659657hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764277, essv6726001, essv6675356
SamplesSSM032, SSM063, SSM046
Known GenesIPO9-AS1, NAV1
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)esv2721495
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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