A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678615



Internal ID9944720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55517807..55517987hg38UCSC Ensembl
chr19:56029174..56029354hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5972109, essv5558308, essv6396273, essv5894796, essv6061376, essv6073426, essv5550253, essv6097507, essv5541482, essv5464629
SamplesHG00442, HG01374, NA18550, HG00260, HG00344, HG00324, HG00331, NA18576, HG00319, NA18620
Known GenesSSC5D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678615
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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