A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982411



Internal ID12973676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:37939783..38113607hg38UCSC Ensembl
InnerchrX:37799036..37972860hg19UCSC Ensembl
InnerchrX:37683980..37857804hg18UCSC Ensembl
InnerchrX:37555253..37729077hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38173825
hg19173825
hg18173825
hg17173825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752323
Supporting Variants
SamplesBEC_437
Known GenesCXorf27, SYTL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982411
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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