A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969971



Internal ID10075193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127196238..127197267hg38UCSC Ensembl
OuterchrX:126330221..126331250hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740457, esv2740455
Supporting Variants
SamplesSSM028
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)essv6969971
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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