A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003742



Internal ID7068847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382393..150383294hg38UCSC Ensembl
OuterchrX:149550661..149551562hg19UCSC Ensembl
OuterchrX:149301319..149302220hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38902
hg19902
hg18902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563620
SamplesHuRef
Known GenesMAMLD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003742
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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