A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929513



Internal ID10040544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:145020269..145020389hg38UCSC Ensembl
Outerchr2:145777836..145777956hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720923, esv2720924
Supporting Variants
SamplesSSM020
Known GenesTEX41
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)essv6929513
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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