A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232446



Internal ID2234262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25408266..25417926hg38UCSC Ensembl
Innerchr6:25408266..25417926hg38UCSC Ensembl
Outerchr6:25407766..25418426hg38UCSC Ensembl
chr6:25408494..25418154hg19UCSC Ensembl
Innerchr6:25408494..25418154hg19UCSC Ensembl
Outerchr6:25407994..25418654hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg389661
hg199661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608384
Supporting Variants
SamplesNA12340
Known GenesLRRC16A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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