A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435175



Internal ID15282129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1415659..1418357hg38UCSC Ensembl
InnerchrX:1416659..1417357hg38UCSC Ensembl
OuterchrX:1414659..1419357hg38UCSC Ensembl
chrX:1534552..1537250hg19UCSC Ensembl
InnerchrX:1535552..1536250hg19UCSC Ensembl
OuterchrX:1533552..1538250hg19UCSC Ensembl
chrX:1494552..1497250hg18UCSC Ensembl
InnerchrX:1495552..1496250hg18UCSC Ensembl
OuterchrX:1493552..1498250hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4562e59
Supporting Variantsessv8697504
SamplesNA19240
Known GenesASMTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435175
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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