A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752333



Internal ID12985885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7425903..7540555hg38UCSC Ensembl
InnerchrX:7343944..7458596hg19UCSC Ensembl
InnerchrX:7353944..7468596hg18UCSC Ensembl
InnerchrX:7203680..7318332hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38114653
hg19114653
hg18114653
hg17114653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e55
Supporting Variantsessv6981030, essv6981031, essv6987898
SamplesBEC_341
Known Genes
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)esv2752333
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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