A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5601282



Internal ID8578685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83922659..83923270hg38UCSC Ensembl
chr1:84388342..84388953hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664430
Supporting Variants
SamplesNA19436
Known GenesTTLL7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5601282
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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