A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749475



Internal ID9983759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:68128785..68129045hg38UCSC Ensembl
Outerchr1:68594468..68594728hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697021, essv6880457, essv6859241
SamplesSSM088, SSM094, SSM038
Known GenesGNG12-AS1, WLS
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)esv2749475
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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