A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9963912



Internal ID6589205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69858478..69864694hg38UCSC Ensembl
Innerchr1:69858484..69864688hg38UCSC Ensembl
Outerchr1:69858472..69864700hg38UCSC Ensembl
chr1:70324161..70330377hg19UCSC Ensembl
Innerchr1:70324167..70330371hg19UCSC Ensembl
Outerchr1:70324155..70330383hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586344
Supporting Variants
SamplesHG03114
Known GenesLRRC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9963912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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