A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645577



Internal ID6685639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25121452..25367702hg38UCSC Ensembl
Innerchr20:25121602..25367552hg38UCSC Ensembl
Outerchr20:25121302..25367852hg38UCSC Ensembl
chr20:25102088..25348338hg19UCSC Ensembl
Innerchr20:25102238..25348188hg19UCSC Ensembl
Outerchr20:25101938..25348488hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38246251
hg19246251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv779e214
Supporting Variantsessv16166450, essv16166449
SamplesHG03135, NA19454
Known GenesABHD12, ENTPD6, LOC284798, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645577
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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