A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499621



Internal ID4152387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108468302..108471876hg38UCSC Ensembl
chr6:108789505..108793079hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383575
hg193575
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610322
Supporting Variants
SamplesHG03756
Known GenesLACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499621
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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