A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9992743



Internal ID6618036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81840150..81842747hg38UCSC Ensembl
Innerchr1:81840181..81842717hg38UCSC Ensembl
Outerchr1:81840120..81842778hg38UCSC Ensembl
chr1:82305835..82308432hg19UCSC Ensembl
Innerchr1:82305866..82308402hg19UCSC Ensembl
Outerchr1:82305805..82308463hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382598
hg192598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586619
Supporting Variants
SamplesHG00623
Known GenesLPHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9992743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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