A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663199



Internal ID4707533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71809393..71890901hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5998200, essv6197426, essv6013966, essv5490392, essv5931397, essv5896291, essv6036308, essv6287399, essv5489654, essv6180642, essv6110032
SamplesHG00707, NA19010, HG00553, HG01134, HG00689, HG01124, HG00628, HG00653, NA18977, HG00530, NA18615
Known GenesPHKA1
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663199
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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