A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456149



Internal ID4145966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:86707942..86799694hg38UCSC Ensembl
Innerchr6:86707942..86799694hg38UCSC Ensembl
Outerchr6:86707442..86800194hg38UCSC Ensembl
chr6:87417660..87509412hg19UCSC Ensembl
Innerchr6:87417660..87509412hg19UCSC Ensembl
Outerchr6:87417160..87509912hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3891753
hg1991753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609850
Supporting Variants
SamplesHG03754
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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