A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1395e199



Internal ID20124697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19447770..19451550hg38UCSC Ensembl
chrX:19465888..19469668hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg383781
hg193781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673161, esv2657557
SamplesHG00344, NA20508, HG00111, HG00188, HG01140, HG00337, HG00330, HG00338, NA19676, HG00138, HG01067
Known GenesMAP3K15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1395e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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