A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677035



Internal ID9943140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154402438..154402634hg38UCSC Ensembl
chrX:153630779..153630975hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5802726, essv6348889, essv5791729, essv5696553, essv5488257, essv5471414, essv6363682, essv6522198
SamplesHG01060, NA12717, HG01079, NA10847, HG00282, HG00136, NA20530, HG00319
Known GenesDNASE1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677035
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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