A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697628



Internal ID15029348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:58456294..58510392hg38UCSC Ensembl
InnerchrX:58457294..58509392hg38UCSC Ensembl
OuterchrX:58455294..58511392hg38UCSC Ensembl
chrX:58482727..58536825hg19UCSC Ensembl
InnerchrX:58483727..58535825hg19UCSC Ensembl
OuterchrX:58481727..58537825hg19UCSC Ensembl
chrX:58499452..58553550hg18UCSC Ensembl
InnerchrX:58500452..58552550hg18UCSC Ensembl
OuterchrX:58498452..58554550hg18UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3854099
hg1954099
hg1854099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350962
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697628
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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