A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11452n54



Internal ID20144876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74965554..75055917hg38UCSC Ensembl
chr7:74776390..74866774hg19UCSC Ensembl
chr7:74614326..74704710hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3890364
hg1990385
hg1890385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607507, nsv607508
Samples
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11452n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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