A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9980938



Internal ID6606231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77308819..77315915hg38UCSC Ensembl
Innerchr1:77308819..77315915hg38UCSC Ensembl
Outerchr1:77308499..77316219hg38UCSC Ensembl
chr1:77774504..77781600hg19UCSC Ensembl
Innerchr1:77774504..77781600hg19UCSC Ensembl
Outerchr1:77774184..77781904hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387097
hg197097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586520
Supporting Variants
SamplesHG02837
Known GenesAK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9980938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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