A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16466745



Internal ID19330305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64928675..64928774hg38UCSC Ensembl
chrX:64148555..64148654hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3676152
Supporting Variants
Samples
Known GenesZC4H2
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16466745
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer