A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645354



Internal ID7032104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14923608..15194779hg38UCSC Ensembl
Innerchr20:14923623..15194764hg38UCSC Ensembl
Outerchr20:14923593..15194794hg38UCSC Ensembl
chr20:14904254..15175425hg19UCSC Ensembl
Innerchr20:14904269..15175410hg19UCSC Ensembl
Outerchr20:14904239..15175440hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38271172
hg19271172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144853, essv16144855, essv16144854
SamplesNA20762, NA20767, HG03103
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645354
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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