A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672145



Internal ID9591564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3898348..3904529hg38UCSC Ensembl
Outerchr20:3898191..3904682hg38UCSC Ensembl
Innerchr20:3878995..3885176hg19UCSC Ensembl
Outerchr20:3878838..3885329hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386492
hg196492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv776e199
Supporting Variantsessv5451984, essv6545501
SamplesHG00268, NA19726
Known GenesPANK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672145
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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