A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581317



Internal ID3193281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150437804..150440460hg38UCSC Ensembl
Innerchr6:150437821..150440443hg38UCSC Ensembl
Outerchr6:150437787..150440477hg38UCSC Ensembl
chr6:150758940..150761596hg19UCSC Ensembl
Innerchr6:150758957..150761579hg19UCSC Ensembl
Outerchr6:150758923..150761613hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382657
hg192657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611233
Supporting Variants
SamplesHG02807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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