A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739904



Internal ID3290400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3691204..3691669hg38UCSC Ensembl
OuterchrX:3609245..3609710hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927258, essv6775017, essv6799400, essv6719906, essv6930977, essv6975655, essv6849882, essv6957815
SamplesSSM086, SSM072, SSM020, SSM066, SSM029, SSM019, SSM044, SSM026
Known GenesPRKX
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)esv2739904
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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