A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5856028



Internal ID9063974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126554673..126591340hg38UCSC Ensembl
chr2:127312250..127348917hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836668
hg1936668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665618
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5856028
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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