A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809595



Internal ID13307409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110614278..114234833hg38UCSC Ensembl
InnerchrX:110616268..114233253hg38UCSC Ensembl
OuterchrX:110614168..114234953hg38UCSC Ensembl
chrX:109857506..113478047hg19UCSC Ensembl
InnerchrX:109859496..113476467hg19UCSC Ensembl
OuterchrX:109857396..113478167hg19UCSC Ensembl
chrX:109744162..113364303hg18UCSC Ensembl
InnerchrX:109746152..113362723hg18UCSC Ensembl
OuterchrX:109744052..113364423hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg383620556
hg193620542
hg183620142
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361732
Supporting Variants
SamplesNA12878
Known GenesALG13, AMOT, CAPN6, CHRDL1, DCX, LHFPL1, LINC00890, MIR4329, PAK3, RNU6-28P, TRPC5, TRPC5OS, ZCCHC16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809595
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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