A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592173



Internal ID6979500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119896399..119934239hg38UCSC Ensembl
Innerchr2:119896399..119934239hg38UCSC Ensembl
Outerchr2:119895899..119934739hg38UCSC Ensembl
chr2:120653975..120691815hg19UCSC Ensembl
Innerchr2:120653975..120691815hg19UCSC Ensembl
Outerchr2:120653475..120692315hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3837841
hg1937841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641091
SamplesNA20887
Known GenesPTPN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592173
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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