A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593148



Internal ID6980472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161006922..161012808hg38UCSC Ensembl
Innerchr2:161006922..161012808hg38UCSC Ensembl
Outerchr2:161006736..161013012hg38UCSC Ensembl
chr2:161863433..161869319hg19UCSC Ensembl
Innerchr2:161863433..161869319hg19UCSC Ensembl
Outerchr2:161863247..161869523hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733903
SamplesNA19054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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