A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722273



Internal ID9956572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210358669..210359448hg38UCSC Ensembl
Outerchr1:210532013..210532792hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679333
SamplesSSM033
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)esv2722273
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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