A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9993531



Internal ID6618824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81874959..81880408hg38UCSC Ensembl
Innerchr1:81874959..81880408hg38UCSC Ensembl
Outerchr1:81874807..81880579hg38UCSC Ensembl
chr1:82340644..82346093hg19UCSC Ensembl
Innerchr1:82340644..82346093hg19UCSC Ensembl
Outerchr1:82340492..82346264hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586621
Supporting Variants
SamplesHG02406
Known GenesLPHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9993531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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