A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592558



Internal ID6979885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134558703..134562047hg38UCSC Ensembl
Innerchr2:134558737..134562013hg38UCSC Ensembl
Outerchr2:134558669..134562081hg38UCSC Ensembl
chr2:135316274..135319618hg19UCSC Ensembl
Innerchr2:135316308..135319584hg19UCSC Ensembl
Outerchr2:135316240..135319652hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682877
SamplesNA19474
Known GenesTMEM163
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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