A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721617



Internal ID10305253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202624134..202625389hg38UCSC Ensembl
Outerchr1:202593262..202594517hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769676, essv6669203, essv6777078, essv6972628, essv6707393, essv6718299, essv6847263
SamplesSSM065, SSM041, SSM029, SSM031, SSM067, SSM044, SSM086
Known GenesSYT2
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)esv2721617
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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