A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591045



Internal ID6978373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62689329..62694533hg38UCSC Ensembl
Innerchr2:62689329..62694533hg38UCSC Ensembl
Outerchr2:62689159..62694620hg38UCSC Ensembl
chr2:62916464..62921668hg19UCSC Ensembl
Innerchr2:62916464..62921668hg19UCSC Ensembl
Outerchr2:62916294..62921755hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385205
hg195205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv704e214
Supporting Variantsessv10522166
SamplesNA12890
Known GenesEHBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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