A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863411



Internal ID5061661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14763163..14765217hg38UCSC Ensembl
Innerchr1:14763163..14765217hg38UCSC Ensembl
Outerchr1:14762790..14765589hg38UCSC Ensembl
chr1:15089659..15091713hg19UCSC Ensembl
Innerchr1:15089659..15091713hg19UCSC Ensembl
Outerchr1:15089286..15092085hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585288
Supporting Variants
SamplesNA18536
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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