A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660672



Internal ID9926777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:93611396..93619809hg38UCSC Ensembl
OuterchrX:93611359..93619859hg38UCSC Ensembl
InnerchrX:92866395..92874808hg19UCSC Ensembl
OuterchrX:92866358..92874858hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5640057, essv5733499, essv5547294, essv6436132, essv5926639
SamplesHG00427, NA18579, NA18628, NA19078, NA18624
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660672
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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