A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775018



Internal ID10181000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3759151..3759618hg38UCSC Ensembl
OuterchrX:3677192..3677659hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739907
Supporting Variants
SamplesSSM066
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)essv6775018
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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