A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9993535



Internal ID6618828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81916630..81920696hg38UCSC Ensembl
Innerchr1:81916638..81920688hg38UCSC Ensembl
Outerchr1:81916622..81920704hg38UCSC Ensembl
chr1:82382314..82386380hg19UCSC Ensembl
Innerchr1:82382322..82386372hg19UCSC Ensembl
Outerchr1:82382306..82386388hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384067
hg194067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586624
Supporting Variants
SamplesNA19347
Known GenesLPHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9993535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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