A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801740



Internal ID10206594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196798716..196923709hg38UCSC Ensembl
Outerchr1:196767846..196892839hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124994
hg19124994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721040
Supporting Variants
SamplesSSM073
Known GenesCFHR1, CFHR4
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)essv6801740
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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