A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739708



Internal ID9974049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1416171..1416403hg38UCSC Ensembl
OuterchrX:1535064..1535296hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861422, essv6878941, essv6964489
SamplesSSM027, SSM088, SSM093
Known GenesASMTL
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)esv2739708
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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