A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904074



Internal ID9985862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147258595..147259617hg38UCSC Ensembl
OuterchrX:146340113..146341135hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740575
Supporting Variants
SamplesSSM002
Known GenesMIR509-1, MIR509-2, MIR509-3
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)essv6904074
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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