A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701644



Internal ID9768910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120463720..120463972hg38UCSC Ensembl
OuterchrX:119597575..119597827hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740433
Supporting Variants
SamplesSSM039
Known GenesLAMP2
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)essv6701644
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