A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986336



Internal ID12628035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:105938207..107123872hg38UCSC Ensembl
InnerchrX:105182199..106367102hg19UCSC Ensembl
InnerchrX:105068855..106253758hg18UCSC Ensembl
InnerchrX:104988344..106173247hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381185666
hg191184904
hg181184904
hg171184904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752312
Supporting Variants
SamplesBEC_536
Known GenesCLDN2, CXorf57, MORC4, MUM1L1, NRK, NUP62CL, RBM41, RIPPLY1, RNF128, SERPINA7, TBC1D8B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986336
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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