A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722706



Internal ID9957006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215058779..215059362hg38UCSC Ensembl
Outerchr1:215232122..215232705hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812265, essv6750739, essv6745073, essv6917603
SamplesSSM055, SSM057, SSM017, SSM002
Known GenesKCNK2
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)esv2722706
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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