A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861483



Internal ID10258853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88295713..88295800hg38UCSC Ensembl
OuterchrX:87550714..87550801hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740293, esv2740294
Supporting Variants
SamplesSSM088
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)essv6861483
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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