A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731249



Internal ID15045134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173399528..173399679hg38UCSC Ensembl
Innerchr4:173399603..173399604hg38UCSC Ensembl
Outerchr4:173399428..173399779hg38UCSC Ensembl
chr4:174320679..174320830hg19UCSC Ensembl
Innerchr4:174320754..174320755hg19UCSC Ensembl
Outerchr4:174320579..174320930hg19UCSC Ensembl
chr4:174557254..174557405hg18UCSC Ensembl
Innerchr4:174557330..174557329hg18UCSC Ensembl
Outerchr4:174557154..174557505hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38152
hg19152
hg18152
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302523
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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