A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739901



Internal ID10323537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3598223..3598733hg38UCSC Ensembl
OuterchrX:3516264..3516774hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964512, essv6771304
SamplesSSM027, SSM065
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)esv2739901
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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