A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740136



Internal ID10323772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47148710..47148836hg38UCSC Ensembl
OuterchrX:47008109..47008235hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866203, essv6671877, essv6849925, essv6861461, essv6908105
SamplesSSM088, SSM089, SSM031, SSM014, SSM086
Known GenesRBM10
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)esv2740136
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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