A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739963



Internal ID9974305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11216833..11639506hg38UCSC Ensembl
OuterchrX:11234953..11657626hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38422674
hg19422674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829364, essv6765302, essv6731343, essv6778717
SamplesSSM047, SSM067, SSM010, SSM063
Known GenesAMELX, ARHGAP6
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739963
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer