A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9850146



Internal ID6475439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8946310..8952931hg38UCSC Ensembl
Innerchr1:8946310..8952931hg38UCSC Ensembl
Outerchr1:8946088..8953203hg38UCSC Ensembl
chr1:9006369..9012990hg19UCSC Ensembl
Innerchr1:9006369..9012990hg19UCSC Ensembl
Outerchr1:9006147..9013262hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg386622
hg196622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585160
Supporting Variants
SamplesHG03224
Known GenesCA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9850146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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