A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942278



Internal ID10050787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172043019..172043156hg38UCSC Ensembl
Outerchr2:172907760..172907888hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38138
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721132, esv2721136
Supporting Variants
SamplesSSM023
Known GenesMETAP1D
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)essv6942278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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