A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752321



Internal ID12985873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31748526..31960827hg38UCSC Ensembl
InnerchrX:31766643..31978944hg19UCSC Ensembl
InnerchrX:31676564..31888865hg18UCSC Ensembl
InnerchrX:31526300..31738601hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38212302
hg19212302
hg18212302
hg17212302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989266, essv6981851, essv6989528
SamplesBEC_493
Known GenesDMD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752321
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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