A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766117



Internal ID13617902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81174036..81174037hg38UCSC Ensembl
InnerchrX:81174014..81174059hg38UCSC Ensembl
OuterchrX:81174013..81174060hg38UCSC Ensembl
chrX:80429535..80429536hg19UCSC Ensembl
InnerchrX:80429513..80429558hg19UCSC Ensembl
OuterchrX:80429512..80429559hg19UCSC Ensembl
chrX:80316191..80316192hg18UCSC Ensembl
InnerchrX:80316214..80316169hg18UCSC Ensembl
OuterchrX:80316168..80316215hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307397
Supporting Variants
SamplesNA12873
Known GenesHMGN5
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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