A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674042



Internal ID9637258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48204469..48239355hg38UCSC Ensembl
OuterchrX:48063905..48098790hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3834887
hg1934886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740146, esv2740145
Supporting Variants
SamplesSSM001
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)essv6674042
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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