A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12649648



Internal ID1182210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169692220..169693333hg38UCSC Ensembl
Innerchr6:169692220..169693333hg38UCSC Ensembl
Outerchr6:169692131..169693448hg38UCSC Ensembl
chr6:170092316..170093429hg19UCSC Ensembl
Innerchr6:170092316..170093429hg19UCSC Ensembl
Outerchr6:170092227..170093544hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611722
Supporting Variants
SamplesHG01060
Known GenesWDR27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12649648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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