A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10766557



Internal ID3528802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176290669..176292602hg38UCSC Ensembl
Innerchr2:176290819..176292452hg38UCSC Ensembl
Outerchr2:176290519..176292752hg38UCSC Ensembl
chr2:177155397..177157330hg19UCSC Ensembl
Innerchr2:177155547..177157180hg19UCSC Ensembl
Outerchr2:177155247..177157480hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381934
hg191934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593439
Supporting Variants
SamplesHG03121
Known GenesMTX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10766557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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