A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10833002



Internal ID834818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208368715..208383261hg38UCSC Ensembl
Innerchr2:208369215..208382761hg38UCSC Ensembl
Outerchr2:208367715..208384261hg38UCSC Ensembl
chr2:209233440..209247986hg19UCSC Ensembl
Innerchr2:209233940..209247486hg19UCSC Ensembl
Outerchr2:209232440..209248986hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814547
hg1914547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594114
Supporting Variants
SamplesHG02944
Known GenesPTH2R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10833002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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