A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12476181



Internal ID3219038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99519288..99524676hg38UCSC Ensembl
Innerchr6:99519288..99524676hg38UCSC Ensembl
Outerchr6:99519172..99524884hg38UCSC Ensembl
chr6:99967164..99972552hg19UCSC Ensembl
Innerchr6:99967164..99972552hg19UCSC Ensembl
Outerchr6:99967048..99972760hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg385389
hg195389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610121
Supporting Variants
SamplesHG02820
Known GenesTSTD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12476181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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