A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662819



Internal ID9928924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154996962..154997095hg38UCSC Ensembl
chr1:154969438..154969571hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5500790, essv6123840, essv6210734, essv6321334, essv5837286, essv5581310, essv5655311, essv5977801, essv6569859, essv5655778, essv6403881, essv6167926
SamplesHG00671, HG00422, HG00427, NA18557, HG00463, NA18536, NA18608, HG00580, HG00418, NA18622, NA18562, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662819
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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