A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727652



Internal ID9791682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382866..150383203hg38UCSC Ensembl
OuterchrX:149551134..149551471hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740595
Supporting Variants
SamplesSSM046
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)essv6727652
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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