A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581418



Internal ID799129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151156413..151160220hg38UCSC Ensembl
Innerchr6:151156463..151160170hg38UCSC Ensembl
Outerchr6:151156363..151160270hg38UCSC Ensembl
chr6:151477548..151481355hg19UCSC Ensembl
Innerchr6:151477598..151481305hg19UCSC Ensembl
Outerchr6:151477498..151481405hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611250
Supporting Variants
SamplesHG00379
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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