A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381888



Internal ID14882164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119900261..119924559hg38UCSC Ensembl
InnerchrX:119901261..119923559hg38UCSC Ensembl
OuterchrX:119899261..119925559hg38UCSC Ensembl
chrX:119034224..119058522hg19UCSC Ensembl
InnerchrX:119035224..119057522hg19UCSC Ensembl
OuterchrX:119033224..119059522hg19UCSC Ensembl
chrX:118918252..118942550hg18UCSC Ensembl
InnerchrX:118919252..118941550hg18UCSC Ensembl
OuterchrX:118917252..118943550hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824299
hg1924299
hg1824299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4609e59
Supporting Variantsessv8697458
SamplesNA19240
Known GenesAKAP14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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