A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220185



Internal ID5720913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21499275..21504437hg38UCSC Ensembl
Innerchr6:21499275..21504437hg38UCSC Ensembl
Outerchr6:21498775..21504937hg38UCSC Ensembl
chr6:21499506..21504668hg19UCSC Ensembl
Innerchr6:21499506..21504668hg19UCSC Ensembl
Outerchr6:21499006..21505168hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385163
hg195163
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608309
Supporting Variants
SamplesNA19098
Known GenesLINC00581
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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