A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10779409



Internal ID781225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178809374..178845060hg38UCSC Ensembl
chr2:179674101..179709787hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3835687
hg1935687
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593495
Supporting Variants
SamplesHG02952
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10779409
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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