A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904256



Internal ID9669229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382902..150383214hg38UCSC Ensembl
OuterchrX:149551159..149551482hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38313
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740595
Supporting Variants
SamplesSSM013
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)essv6904256
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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