A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12213665



Internal ID3554152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19345874..19349694hg38UCSC Ensembl
Innerchr6:19345882..19349687hg38UCSC Ensembl
Outerchr6:19345867..19349702hg38UCSC Ensembl
chr6:19346105..19349925hg19UCSC Ensembl
Innerchr6:19346113..19349918hg19UCSC Ensembl
Outerchr6:19346098..19349933hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383821
hg193821
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608270
Supporting Variants
SamplesHG03135
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12213665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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