A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675772



Internal ID9595191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:101423187..101425644hg38UCSC Ensembl
OuterchrX:101423150..101425694hg38UCSC Ensembl
InnerchrX:100678175..100680632hg19UCSC Ensembl
OuterchrX:100678138..100680682hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382545
hg192545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5505232
SamplesHG00436
Known GenesARMCX4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675772
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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