A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7123581



Internal ID10055177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119900115..119924413hg38UCSC Ensembl
OuterchrX:119034078..119058376hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824299
hg1924299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2854014
Supporting Variants
SamplesHuRef
Known GenesAKAP14
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7123581
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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