A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442431



Internal ID15289384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149504474..149504484hg38UCSC Ensembl
Innerchr6:149504454..149504504hg38UCSC Ensembl
Outerchr6:149504444..149504514hg38UCSC Ensembl
chr6:149825610..149825620hg19UCSC Ensembl
Innerchr6:149825590..149825640hg19UCSC Ensembl
Outerchr6:149825580..149825650hg19UCSC Ensembl
chr6:149867303..149867313hg18UCSC Ensembl
Innerchr6:149867333..149867283hg18UCSC Ensembl
Outerchr6:149867273..149867343hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864665
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442431
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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