A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738254



Internal ID13115270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227376494..227393573hg38UCSC Ensembl
Outerchr2:227376294..227393773hg38UCSC Ensembl
Innerchr2:228241210..228258289hg19UCSC Ensembl
Outerchr2:228241010..228258489hg19UCSC Ensembl
Innerchr2:227949454..227966533hg18UCSC Ensembl
Outerchr2:227949254..227966733hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3817480
hg1917480
hg1817480
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302868
Supporting Variants
SamplesNA11829
Known GenesTM4SF20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738254
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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