A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982463



Internal ID12973778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:79886953..79975702hg38UCSC Ensembl
InnerchrX:79142458..79231201hg19UCSC Ensembl
InnerchrX:79029114..79117857hg18UCSC Ensembl
InnerchrX:78948603..79037346hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3888750
hg1988744
hg1888744
hg1788744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752337
Supporting Variants
SamplesBEC_447
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982463
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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