A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12485082



Internal ID2166588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101782630..101784520hg38UCSC Ensembl
Innerchr6:101782635..101784515hg38UCSC Ensembl
Outerchr6:101782625..101784525hg38UCSC Ensembl
chr6:102230505..102232395hg19UCSC Ensembl
Innerchr6:102230510..102232390hg19UCSC Ensembl
Outerchr6:102230500..102232400hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381891
hg191891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610170
Supporting Variants
SamplesHG01956
Known GenesGRIK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12485082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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