A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5597685



Internal ID9012512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23998049..24003755hg38UCSC Ensembl
OuterchrX:23997678..24004125hg38UCSC Ensembl
InnerchrX:24016166..24021872hg19UCSC Ensembl
OuterchrX:24015795..24022242hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660439
Supporting Variants
SamplesHG00625
Known GenesKLHL15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5597685
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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