A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845918



Internal ID6471211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6376454..6378075hg38UCSC Ensembl
Innerchr1:6376498..6378031hg38UCSC Ensembl
Outerchr1:6376410..6378119hg38UCSC Ensembl
chr1:6436514..6438135hg19UCSC Ensembl
Innerchr1:6436558..6438091hg19UCSC Ensembl
Outerchr1:6436470..6438179hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381622
hg191622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585105
Supporting Variants
SamplesHG02666
Known GenesACOT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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