A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10888662



Internal ID890478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238869973..238892363hg38UCSC Ensembl
chr2:239778614..239801004hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3822391
hg1922391
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594773
Supporting Variants
SamplesNA20800
Known GenesTWIST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10888662
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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