A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675067



Internal ID9941172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:54564552..54565965hg38UCSC Ensembl
OuterchrX:54564513..54566022hg38UCSC Ensembl
InnerchrX:54590985..54592398hg19UCSC Ensembl
OuterchrX:54590946..54592455hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6550882, essv5975655, essv6553913, essv6355796, essv6046887, essv5706185, essv5585684, essv6513875, essv6002765, essv5766091
SamplesNA12717, NA12842, NA20507, NA11919, NA12829, NA07051, NA06986, NA18501, NA12830, NA18522
Known GenesGNL3L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675067
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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