A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697506



Internal ID15062670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1419559..1420657hg38UCSC Ensembl
InnerchrX:1419657..1420559hg38UCSC Ensembl
OuterchrX:1418559..1421657hg38UCSC Ensembl
chrX:1538452..1539550hg19UCSC Ensembl
InnerchrX:1538550..1539452hg19UCSC Ensembl
OuterchrX:1537452..1540550hg19UCSC Ensembl
chrX:1498452..1499550hg18UCSC Ensembl
InnerchrX:1499452..1498550hg18UCSC Ensembl
OuterchrX:1497452..1500550hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326708
Supporting Variants
SamplesNA19239
Known GenesASMTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697506
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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