A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5963904



Internal ID9152970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178922965..178927749hg38UCSC Ensembl
chr1:178892100..178896884hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677686
Supporting Variants
SamplesHG01342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5963904
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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