A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383078



Internal ID15230049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:28583172..28583172hg38UCSC Ensembl
InnerchrX:28583171..28583173hg38UCSC Ensembl
OuterchrX:28583122..28583222hg38UCSC Ensembl
chrX:28601289..28601289hg19UCSC Ensembl
InnerchrX:28601288..28601290hg19UCSC Ensembl
OuterchrX:28601239..28601339hg19UCSC Ensembl
chrX:28511210..28511210hg18UCSC Ensembl
InnerchrX:28511211..28511209hg18UCSC Ensembl
OuterchrX:28511160..28511260hg18UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701544
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383078
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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