A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929090



Internal ID10041315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37350865..37351119hg38UCSC Ensembl
Outerchr1:37816466..37816720hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747186, esv2747197
Supporting Variants
SamplesSSM020
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)essv6929090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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