A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589365



Internal ID6629654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242148376..242166515hg38UCSC Ensembl
Innerchr1:242148382..242166509hg38UCSC Ensembl
Outerchr1:242148370..242166521hg38UCSC Ensembl
chr1:242311678..242329817hg19UCSC Ensembl
Innerchr1:242311684..242329811hg19UCSC Ensembl
Outerchr1:242311672..242329823hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3818140
hg1918140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10356139, essv10356138, essv10356140
SamplesHG03268, HG02501, HG02013
Known GenesPLD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589365
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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