A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657557



Internal ID9576976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19447776..19451177hg38UCSC Ensembl
chrX:19465894..19469295hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1395e199
Supporting Variantsessv5451407, essv6033521, essv6447631, essv5840357, essv5956848, essv5504411, essv5488893, essv6572663, essv5893016, essv6491306, essv5656591
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)esv2657557
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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