A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809623



Internal ID13307723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51538827..52222624hg38UCSC Ensembl
InnerchrX:51540817..52221044hg38UCSC Ensembl
OuterchrX:51538717..52222744hg38UCSC Ensembl
chrX:51281679..51965751hg19UCSC Ensembl
InnerchrX:51283669..51964171hg19UCSC Ensembl
OuterchrX:51281569..51965871hg19UCSC Ensembl
chrX:51298419..51982491hg18UCSC Ensembl
InnerchrX:51300409..51980911hg18UCSC Ensembl
OuterchrX:51298309..51982611hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38683798
hg19684073
hg18684073
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350872
Supporting Variants
SamplesNA12878
Known GenesCENPVP1, CENPVP2, GSPT2, MAGED1, MAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809623
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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