A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722862



Internal ID9957162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217096624..217096688hg38UCSC Ensembl
Outerchr1:217269966..217270030hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961804, essv6853483
SamplesSSM027, SSM087
Known GenesESRRG
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)esv2722862
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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