A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540287



Internal ID6353399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126187656..126212808hg38UCSC Ensembl
Innerchr6:126187656..126212808hg38UCSC Ensembl
Outerchr6:126187156..126213308hg38UCSC Ensembl
chr6:126508802..126533954hg19UCSC Ensembl
Innerchr6:126508802..126533954hg19UCSC Ensembl
Outerchr6:126508302..126534454hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3825153
hg1925153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610707
Supporting Variants
SamplesNA20282
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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