A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811673



Internal ID10214646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1443196..1443632hg38UCSC Ensembl
OuterchrX:1562089..1562525hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739713, esv2739711
Supporting Variants
SamplesSSM076
Known GenesASMTL
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)essv6811673
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