A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799855



Internal ID10004176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103523898..103554169hg38UCSC Ensembl
OuterchrX:102778826..102809097hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3830272
hg1930272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740365
Supporting Variants
SamplesSSM009
Known Genes
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)essv6799855
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