A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84211



Internal ID11303522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154781072..155699751hg38UCSC Ensembl
InnerchrX:154009347..154929412hg19UCSC Ensembl
InnerchrX:153662541..154582606hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38918680
hg19920066
hg18920066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29972
Supporting Variants
SamplesHuRef
Known GenesBRCC3, CLIC2, CMC4, F8, F8A1, F8A2, F8A3, FUNDC2, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, MPP1, MTCP1, RAB39B, SMIM9, TMLHE, TMLHE-AS1, VBP1
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84211
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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