A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586230



Internal ID6626543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62147383..62150597hg38UCSC Ensembl
Innerchr1:62147440..62150541hg38UCSC Ensembl
Outerchr1:62147327..62150654hg38UCSC Ensembl
chr1:62613055..62616269hg19UCSC Ensembl
Innerchr1:62613112..62616213hg19UCSC Ensembl
Outerchr1:62612999..62616326hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383215
hg193215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9949410
SamplesNA18552
Known GenesINADL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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