A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8979252



Internal ID13992054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143802651..143802683hg38UCSC Ensembl
InnerchrX:143802662..143802669hg38UCSC Ensembl
OuterchrX:143802630..143802701hg38UCSC Ensembl
chrX:142885746..142885778hg19UCSC Ensembl
InnerchrX:142885757..142885764hg19UCSC Ensembl
OuterchrX:142885725..142885796hg19UCSC Ensembl
chrX:142713412..142713444hg18UCSC Ensembl
InnerchrX:142713430..142713423hg18UCSC Ensembl
OuterchrX:142713391..142713462hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341183
Supporting Variants
SamplesNA18545
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8979252
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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