A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752312



Internal ID12639178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:105705935..107123872hg38UCSC Ensembl
InnerchrX:104949928..106367102hg19UCSC Ensembl
InnerchrX:104836584..106253758hg18UCSC Ensembl
InnerchrX:104756073..106173247hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381417938
hg191417175
hg181417175
hg171417175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986336, essv6988619, essv6983047
SamplesBEC_536
Known GenesCLDN2, CXorf57, IL1RAPL2, MORC4, MUM1L1, NRK, NUP62CL, RBM41, RIPPLY1, RNF128, SERPINA7, TBC1D8B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752312
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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