A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873181



Internal ID10269345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147258619..147259505hg38UCSC Ensembl
OuterchrX:146340137..146341023hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740575
Supporting Variants
SamplesSSM091
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)essv6873181
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