A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687730



Internal ID9754955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382902..150383189hg38UCSC Ensembl
OuterchrX:149551165..149551457hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38288
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740595
Supporting Variants
SamplesSSM035
Known GenesMAMLD1
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)essv6687730
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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