A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670623



Internal ID9590042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235135084..235135268hg38UCSC Ensembl
chr1:235298399..235298583hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5489848, essv6308546, essv6105326, essv6191561, essv5715183, essv6569538, essv6513219, essv6571768, essv6362764, essv6000194, essv6140632, essv6106053, essv5778811, essv5465639, essv6116899, essv5835726, essv5648938, essv6212350, essv5564905, essv5873831, essv6081245, essv5706960, essv6321453, essv5664356, essv5849969, essv5657540, essv5909989, essv5667375, essv6246043, essv6306458, essv6498609, essv6344463, essv5561062, essv6227012, essv5896853, essv6203582, essv6588542, essv5454526, essv5954079, essv6560718, essv6337331
SamplesHG01357, HG01441, HG00318, HG00344, NA18530, NA19819, HG00310, HG01098, HG01101, NA19355, HG01107, HG00158, NA19428, HG00337, HG01378, HG00259, NA19197, HG01048, HG00330, NA12761, NA18547, HG00276, NA19395, HG00108, NA19771, NA19393, HG00282, HG01070, NA19138, NA19116, NA20507, NA19399, HG01366, NA19371, NA19381, HG00345, NA19385, HG00278, HG00136, NA18519, HG01354
Known GenesRBM34
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670623
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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