A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394184



Internal ID15241149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11223655..11223674hg38UCSC Ensembl
InnerchrX:11223651..11223678hg38UCSC Ensembl
OuterchrX:11223632..11223697hg38UCSC Ensembl
chrX:11241775..11241794hg19UCSC Ensembl
InnerchrX:11241771..11241798hg19UCSC Ensembl
OuterchrX:11241752..11241817hg19UCSC Ensembl
chrX:11151696..11151715hg18UCSC Ensembl
InnerchrX:11151719..11151692hg18UCSC Ensembl
OuterchrX:11151673..11151738hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9681236
SamplesNA11894
Known GenesARHGAP6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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