A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9681302



Internal ID13081451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:28629179..28629198hg38UCSC Ensembl
InnerchrX:28629175..28629202hg38UCSC Ensembl
OuterchrX:28629156..28629221hg38UCSC Ensembl
chrX:28647296..28647315hg19UCSC Ensembl
InnerchrX:28647292..28647319hg19UCSC Ensembl
OuterchrX:28647273..28647338hg19UCSC Ensembl
chrX:28557217..28557236hg18UCSC Ensembl
InnerchrX:28557240..28557213hg18UCSC Ensembl
OuterchrX:28557194..28557259hg18UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375960
Supporting Variants
SamplesNA12249
Known GenesIL1RAPL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9681302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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