A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708852



Internal ID10122025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37892955..37893178hg38UCSC Ensembl
OuterchrX:37752208..37752431hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740094, esv2740096
Supporting Variants
SamplesSSM041
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)essv6708852
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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