A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989528



Internal ID12974020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31806733..31960827hg38UCSC Ensembl
InnerchrX:31824850..31978944hg19UCSC Ensembl
InnerchrX:31734771..31888865hg18UCSC Ensembl
InnerchrX:31584507..31738601hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38154095
hg19154095
hg18154095
hg17154095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752321
Supporting Variants
SamplesBEC_493
Known GenesDMD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989528
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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