A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559665



Internal ID4146070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134833554..134838914hg38UCSC Ensembl
Innerchr6:134833570..134838899hg38UCSC Ensembl
Outerchr6:134833539..134838930hg38UCSC Ensembl
chr6:135154692..135160052hg19UCSC Ensembl
Innerchr6:135154708..135160037hg19UCSC Ensembl
Outerchr6:135154677..135160068hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385361
hg195361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610886
Supporting Variants
SamplesHG03754
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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