A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989942



Internal ID12976774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:125399241..125767920hg38UCSC Ensembl
InnerchrX:124533090..124901902hg19UCSC Ensembl
InnerchrX:124360771..124729583hg18UCSC Ensembl
InnerchrX:124258625..124627437hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38368680
hg19368813
hg18368813
hg17368813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752314
Supporting Variants
SamplesBEC_688
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989942
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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