A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585317



Internal ID6625637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15687342..15754481hg38UCSC Ensembl
Innerchr1:15687492..15754331hg38UCSC Ensembl
Outerchr1:15687192..15754631hg38UCSC Ensembl
chr1:16013837..16080976hg19UCSC Ensembl
Innerchr1:16013987..16080826hg19UCSC Ensembl
Outerchr1:16013687..16081126hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3867140
hg1967140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863692, essv9863691, essv9863688, essv9863686, essv9863693, essv9863685, essv9863694, essv9863687, essv9863689, essv9863684, essv9863690
SamplesHG03697, NA20874, HG04211, HG03653, HG03973, HG03754, HG03713, HG02690, HG03644, HG03976, HG03730
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585317
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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