A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16234496



Internal ID576633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64217130..64261760hg38UCSC Ensembl
Innerchr20:64217280..64261610hg38UCSC Ensembl
Outerchr20:64216980..64261910hg38UCSC Ensembl
chr20:62848483..62893113hg19UCSC Ensembl
Innerchr20:62848633..62892963hg19UCSC Ensembl
Outerchr20:62848333..62893263hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3844631
hg1944631
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646335
Supporting Variants
SamplesHG00253
Known GenesMYT1, PCMTD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16234496
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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