A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957814



Internal ID10066405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3165195..3165672hg38UCSC Ensembl
OuterchrX:3083236..3083713hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739898
Supporting Variants
SamplesSSM026
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)essv6957814
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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