A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741376



Internal ID13643937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68652907..68652948hg38UCSC Ensembl
InnerchrX:68652906..68652949hg38UCSC Ensembl
OuterchrX:68652857..68652998hg38UCSC Ensembl
chrX:67872749..67872790hg19UCSC Ensembl
InnerchrX:67872748..67872791hg19UCSC Ensembl
OuterchrX:67872699..67872840hg19UCSC Ensembl
chrX:67789474..67789515hg18UCSC Ensembl
InnerchrX:67789516..67789473hg18UCSC Ensembl
OuterchrX:67789424..67789565hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38426
hg19426
hg18426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3379724
Supporting Variants
SamplesNA12878
Known GenesSTARD8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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