A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988571



Internal ID12628717
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 StatusS
Merged Variantsesv2752334
Supporting Variants
SamplesBEC_580
Known GenesMAGEE2, TTC3P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988571
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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