A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983508



Internal ID12629715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8469953..8779373hg38UCSC Ensembl
InnerchrX:8437994..8747414hg19UCSC Ensembl
InnerchrX:8397994..8707414hg18UCSC Ensembl
InnerchrX:8247730..8557150hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38309421
hg19309421
hg18309421
hg17309421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752339
Supporting Variants
SamplesBEC_662
Known GenesKAL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983508
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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