A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666346



Internal ID9932451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173697863..173698129hg38UCSC Ensembl
chr2:174562591..174562857hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6564017, essv6396679, essv6112941, essv5757351, essv6227639, essv6146718, essv5925135, essv6246889, essv5998874, essv6448894, essv5620049
SamplesNA12383, HG01465, HG00272, NA19313, HG00185, NA19317, HG01048, HG00137, NA19455, HG01149, HG01378
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666346
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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