A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644976



Internal ID6685039
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16109678, essv16109677
SamplesNA18946, HG00473
Known GenesFKBP1A-SDCBP2, SDCBP2, SDCBP2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644976
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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