A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988619



Internal ID12628044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:106034418..106485189hg38UCSC Ensembl
InnerchrX:105278409..105728419hg19UCSC Ensembl
InnerchrX:105165065..105615075hg18UCSC Ensembl
InnerchrX:105084554..105534564hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38450772
hg19450011
hg18450011
hg17450011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752312
Supporting Variants
SamplesBEC_536
Known GenesMUM1L1, SERPINA7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988619
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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