A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752334



Internal ID12639200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:75568052..76030321hg38UCSC Ensembl
InnerchrX:74787887..75250156hg19UCSC Ensembl
InnerchrX:74704612..75166861hg18UCSC Ensembl
InnerchrX:74570908..75033157hg17UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38462270
hg19462270
hg18462250
hg17462250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988571, essv6982702
SamplesBEC_580
Known GenesMAGEE2, TTC3P1
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)esv2752334
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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