A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9996979



Internal ID6622272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83922647..83923263hg38UCSC Ensembl
Innerchr1:83922647..83923263hg38UCSC Ensembl
Outerchr1:83922235..83923570hg38UCSC Ensembl
chr1:84388330..84388946hg19UCSC Ensembl
Innerchr1:84388330..84388946hg19UCSC Ensembl
Outerchr1:84387918..84389253hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586656
Supporting Variants
SamplesNA19771
Known GenesTTLL7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9996979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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