A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665023



Internal ID9931128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235346469..235352242hg38UCSC Ensembl
chr1:235509784..235515557hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385774
hg195774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6328055, essv5544267, essv6279785, essv6445549, essv5593681, essv5999121, essv5552182, essv5675456
SamplesHG00403, HG00654, NA18574, NA18985, HG00419, HG00596, NA18630, HG00472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665023
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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