A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593155



Internal ID6633435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161421556..161422859hg38UCSC Ensembl
Innerchr2:161421568..161422848hg38UCSC Ensembl
Outerchr2:161421545..161422871hg38UCSC Ensembl
chr2:162278067..162279370hg19UCSC Ensembl
Innerchr2:162278079..162279359hg19UCSC Ensembl
Outerchr2:162278056..162279382hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10738330
SamplesHG02727
Known GenesTBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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