A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12197322



Internal ID2901692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14504639..14512509hg38UCSC Ensembl
Innerchr6:14504639..14512509hg38UCSC Ensembl
Outerchr6:14504570..14512678hg38UCSC Ensembl
chr6:14504870..14512740hg19UCSC Ensembl
Innerchr6:14504870..14512740hg19UCSC Ensembl
Outerchr6:14504801..14512909hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg387871
hg197871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608145
Supporting Variants
SamplesHG02571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12197322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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