A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675215



Internal ID10092421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30776286..30776431hg38UCSC Ensembl
Outerchr1:31249133..31249278hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746197, esv2746219, esv2746208
Supporting Variants
SamplesSSM032
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)essv6675215
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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