A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8929453



Internal ID13842757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47370174..47370188hg38UCSC Ensembl
Innerchr6:47370174..47370186hg38UCSC Ensembl
Outerchr6:47370160..47370202hg38UCSC Ensembl
chr6:47337910..47337924hg19UCSC Ensembl
Innerchr6:47337910..47337922hg19UCSC Ensembl
Outerchr6:47337896..47337938hg19UCSC Ensembl
chr6:47445869..47445883hg18UCSC Ensembl
Innerchr6:47445881..47445869hg18UCSC Ensembl
Outerchr6:47445855..47445897hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3404641
Supporting Variants
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8929453
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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