A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749641



Internal ID10330611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70646585..70646909hg38UCSC Ensembl
Outerchr1:71112268..71112592hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877696, essv6725896, essv6714293, essv6859248, essv6829053, essv6773491, essv6954826, essv6699648, essv6840021, essv6669028, essv6807415, essv6925737, essv6950613, essv6914036, essv6832646, essv6864013, essv6847099, essv6686190, essv6967987, essv6853310, essv6816641, essv6972444, essv6859247, essv6906142
SamplesSSM075, SSM046, SSM087, SSM039, SSM093, SSM088, SSM028, SSM084, SSM029, SSM026, SSM089, SSM019, SSM035, SSM031, SSM014, SSM086, SSM066, SSM081, SSM082, SSM078, SSM016, SSM025, SSM043
Known Genes
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)esv2749641
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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