A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330003



Internal ID15176989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144364126..144377124hg38UCSC Ensembl
Innerchr7:144365126..144376124hg38UCSC Ensembl
Outerchr7:144363126..144378124hg38UCSC Ensembl
chr7:144061219..144074217hg19UCSC Ensembl
Innerchr7:144062219..144073217hg19UCSC Ensembl
Outerchr7:144060219..144075217hg19UCSC Ensembl
chr7:143692152..143705150hg18UCSC Ensembl
Innerchr7:143693152..143704150hg18UCSC Ensembl
Outerchr7:143691152..143706150hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3812999
hg1912999
hg1812999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3982e59
Supporting Variantsessv8695624
SamplesNA19239
Known GenesARHGEF5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330003
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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