A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421473



Internal ID8251921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110788876..110792438hg38UCSC Ensembl
Innerchr7:110428932..110432494hg19UCSC Ensembl
Innerchr7:110216168..110219730hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg383563
hg193563
hg183563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5021966, essv5034658, essv5058434, essv5058223, essv5061024, essv5101840, essv5103677, essv5017108, essv5050642, essv5110152, essv5040455, essv5060518, essv5084919, essv5035501, essv5099147, essv5059633, essv5135499, essv5123851, essv5038854, essv5018102, essv5073750, essv5088215, essv5121787, essv5106883, essv5108050, essv5119836, essv5037376, essv5065462, essv5116162, essv5074118
SamplesNA18504, NA20332, NA19098, NA19107, NA19192, NA19315, NA20890, NA18916, NA18498, NA20287, NA19130, NA18520, NA19908, NA21596, NA19176, NA18503, NA18518, NA19151, NA18930, NA21424, NA19390, NA19149, NA19919, NA20341, NA20333, NA20348, NA18509, NA20322, NA19153, NA19431
Known GenesIMMP2L
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421473
Frequency
Sample Size1184
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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