A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739757



Internal ID10323393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1636851..1637235hg38UCSC Ensembl
OuterchrX:1755744..1756128hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1308e201
Supporting Variantsessv6859165, essv6694708, essv6893967, essv6671825, essv6822869
SamplesSSM011, SSM079, SSM031, SSM037, SSM098
Known GenesASMT
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)esv2739757
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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