A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975760



Internal ID10082286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127463793..127468403hg38UCSC Ensembl
OuterchrX:126597774..126602384hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg384611
hg194611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740455, esv2740458
Supporting Variants
SamplesSSM029
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)essv6975760
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