A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866303



Internal ID13318360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130255012..130255039hg38UCSC Ensembl
InnerchrX:130254970..130255081hg38UCSC Ensembl
OuterchrX:130254943..130255108hg38UCSC Ensembl
chrX:129388986..129389013hg19UCSC Ensembl
InnerchrX:129388944..129389055hg19UCSC Ensembl
OuterchrX:129388917..129389082hg19UCSC Ensembl
chrX:129216667..129216694hg18UCSC Ensembl
InnerchrX:129216736..129216625hg18UCSC Ensembl
OuterchrX:129216598..129216763hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368010
Supporting Variants
SamplesNA12005
Known GenesZNF280C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866303
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer