A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663199



Internal ID9929304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72589543..72671051hg38UCSC Ensembl
chrX:71809393..71890901hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3881509
hg1981509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5489654, essv6197426, essv6287399, essv6013966, essv5998200, essv5490392, essv6110032, essv6036308, essv6180642, essv5931397, essv5896291
SamplesHG00689, HG01134, NA18977, HG00530, HG01124, HG00653, NA19010, NA18615, HG00707, HG00628, HG00553
Known GenesPHKA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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