A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591240



Internal ID6978568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72223269..72224210hg38UCSC Ensembl
Innerchr2:72223274..72224205hg38UCSC Ensembl
Outerchr2:72223264..72224215hg38UCSC Ensembl
chr2:72450398..72451339hg19UCSC Ensembl
Innerchr2:72450403..72451334hg19UCSC Ensembl
Outerchr2:72450393..72451344hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10540305, essv10540306, essv10540303, essv10540304
SamplesHG02811, HG03385, HG02840, HG02879
Known GenesEXOC6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591240
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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