A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12238144



Internal ID545405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27404099..27405435hg38UCSC Ensembl
Innerchr6:27404099..27405435hg38UCSC Ensembl
Outerchr6:27403848..27405701hg38UCSC Ensembl
chr6:27371878..27373214hg19UCSC Ensembl
Innerchr6:27371878..27373214hg19UCSC Ensembl
Outerchr6:27371627..27373480hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381337
hg191337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608429
Supporting Variants
SamplesHG00237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12238144
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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