A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12320373



Internal ID2315607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36687588..36691461hg38UCSC Ensembl
Innerchr6:36687589..36691460hg38UCSC Ensembl
Outerchr6:36687587..36691462hg38UCSC Ensembl
chr6:36655365..36659238hg19UCSC Ensembl
Innerchr6:36655366..36659237hg19UCSC Ensembl
Outerchr6:36655364..36659239hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383874
hg193874
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608710
Supporting Variants
SamplesHG02061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12320373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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