A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593133



Internal ID6980457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160307812..160310907hg38UCSC Ensembl
Innerchr2:160307812..160310907hg38UCSC Ensembl
Outerchr2:160307606..160311090hg38UCSC Ensembl
chr2:161164323..161167418hg19UCSC Ensembl
Innerchr2:161164323..161167418hg19UCSC Ensembl
Outerchr2:161164117..161167601hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg383096
hg193096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733129
SamplesNA19701
Known GenesRBMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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