A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29972



Internal ID12608166
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 StatusM
Merged Variants
Supporting Variantsessv84211
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)esv29972
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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