A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693997



Internal ID15078442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196316684..196317282hg38UCSC Ensembl
Innerchr3:196316683..196317283hg38UCSC Ensembl
Outerchr3:196315684..196318282hg38UCSC Ensembl
chr3:196043555..196044153hg19UCSC Ensembl
Innerchr3:196043554..196044154hg19UCSC Ensembl
Outerchr3:196042555..196045153hg19UCSC Ensembl
chr3:197527952..197528550hg18UCSC Ensembl
Innerchr3:197528551..197527951hg18UCSC Ensembl
Outerchr3:197526952..197529550hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407163
Supporting Variants
SamplesNA19240
Known GenesTCTEX1D2, TM4SF19-TCTEX1D2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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