A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697525



Internal ID13734080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:156020193..156029391hg38UCSC Ensembl
InnerchrX:156021193..156028391hg38UCSC Ensembl
OuterchrX:156019193..156030391hg38UCSC Ensembl
chrX:155249858..155259056hg19UCSC Ensembl
InnerchrX:155250858..155258056hg19UCSC Ensembl
OuterchrX:155248858..155260056hg19UCSC Ensembl
chrX:154903052..154912250hg18UCSC Ensembl
InnerchrX:154904052..154911250hg18UCSC Ensembl
OuterchrX:154902052..154913250hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg389199
hg199199
hg189199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3379882
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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