A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10766559



Internal ID5330009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176302094..176339327hg38UCSC Ensembl
chr2:177166822..177204055hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3837234
hg1937234
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593441
Supporting Variants
SamplesNA18871
Known GenesMTX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10766559
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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