A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9980989



Internal ID2362597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77847280..77857327hg38UCSC Ensembl
Innerchr1:77847280..77857327hg38UCSC Ensembl
Outerchr1:77846780..77857827hg38UCSC Ensembl
chr1:78312965..78323012hg19UCSC Ensembl
Innerchr1:78312965..78323012hg19UCSC Ensembl
Outerchr1:78312465..78323512hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810048
hg1910048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586530
Supporting Variants
SamplesHG02090
Known GenesFAM73A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9980989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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