A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6731326



Internal ID10141675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1609757..1610275hg38UCSC Ensembl
OuterchrX:1728650..1729168hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739747, esv2739746
Supporting Variants
SamplesSSM047
Known GenesASMT
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)essv6731326
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