A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586619



Internal ID6626929
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9992743
SamplesHG00623
Known GenesLPHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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