A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657890



Internal ID9923995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1596450..1596892hg38UCSC Ensembl
chrX:1715343..1715785hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6370425, essv6224342, essv6245189, essv5910742, essv5633391, essv6271564, essv6359378, essv5635522, essv6449896
SamplesHG01356, NA19466, HG00251, HG01354, NA19455, NA19321, NA18501, HG00628, NA19463
Known GenesAKAP17A, ASMT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657890
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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