A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933325



Internal ID10044596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31907874..31908488hg38UCSC Ensembl
Outerchr1:32373475..32374089hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746463
Supporting Variants
SamplesSSM021
Known GenesPTP4A2
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)essv6933325
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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