A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16109678



Internal ID6111494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1327053..1337420hg38UCSC Ensembl
Innerchr20:1327053..1337420hg38UCSC Ensembl
Outerchr20:1326976..1337502hg38UCSC Ensembl
chr20:1307697..1318064hg19UCSC Ensembl
Innerchr20:1307697..1318064hg19UCSC Ensembl
Outerchr20:1307620..1318146hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810368
hg1910368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644976
Supporting Variants
SamplesNA18946
Known GenesFKBP1A-SDCBP2, SDCBP2, SDCBP2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16109678
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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