A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830626



Internal ID10231045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2447674..2479877hg38UCSC Ensembl
OuterchrX:2365715..2397918hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3832204
hg1932204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739857
Supporting Variants
SamplesSSM081
Known GenesDHRSX
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)essv6830626
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