A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752339



Internal ID12639205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8398685..8910093hg38UCSC Ensembl
InnerchrX:8366726..8878134hg19UCSC Ensembl
InnerchrX:8326726..8838134hg18UCSC Ensembl
InnerchrX:8176462..8687870hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38511409
hg19511409
hg18511409
hg17511409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983509, essv6988681, essv6983507, essv6983506, essv6983508
SamplesBEC_662
Known GenesFAM9A, KAL1, VCX3B
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)esv2752339
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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