A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804547



Internal ID9860954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217096457..217096840hg38UCSC Ensembl
Outerchr1:217269799..217270182hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722851
Supporting Variants
SamplesSSM074
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)essv6804547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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