A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697495



Internal ID15105728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1293559..1298757hg38UCSC Ensembl
InnerchrX:1294559..1297757hg38UCSC Ensembl
OuterchrX:1292559..1299757hg38UCSC Ensembl
chrX:1412452..1417650hg19UCSC Ensembl
InnerchrX:1413452..1416650hg19UCSC Ensembl
OuterchrX:1411452..1418650hg19UCSC Ensembl
chrX:1372452..1377650hg18UCSC Ensembl
InnerchrX:1373452..1376650hg18UCSC Ensembl
OuterchrX:1371452..1378650hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417820
Supporting Variants
SamplesNA19240
Known GenesCSF2RA, MIR3690, MIR3690-2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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