A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955036



Internal ID9717219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230198444..230198699hg38UCSC Ensembl
Outerchr1:230334190..230334445hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724595, esv2724584
Supporting Variants
SamplesSSM026
Known GenesGALNT2
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)essv6955036
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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