A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739977



Internal ID9974319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15486154..15488237hg38UCSC Ensembl
OuterchrX:15504277..15506360hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799432
SamplesSSM009
Known GenesPIR, PIR-FIGF
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)esv2739977
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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