A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747801



Internal ID10157674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34777600..34777983hg38UCSC Ensembl
Outerchr1:35243201..35243584hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746630
Supporting Variants
SamplesSSM056
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)essv6747801
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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