A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741396



Internal ID14744048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55723681..55723681hg38UCSC Ensembl
InnerchrX:55723680..55723682hg38UCSC Ensembl
OuterchrX:55723631..55723731hg38UCSC Ensembl
chrX:55750114..55750114hg19UCSC Ensembl
InnerchrX:55750113..55750115hg19UCSC Ensembl
OuterchrX:55750064..55750164hg19UCSC Ensembl
chrX:55766839..55766839hg18UCSC Ensembl
InnerchrX:55766840..55766838hg18UCSC Ensembl
OuterchrX:55766789..55766889hg18UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg381641
hg191641
hg181641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352059
Supporting Variants
SamplesNA19240
Known GenesRRAGB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741396
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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