A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11135n54



Internal ID20144559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1388817..1554022hg38UCSC Ensembl
chr7:1428453..1593658hg19UCSC Ensembl
chr7:1394979..1560184hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38165206
hg19165206
hg18165206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605815, nsv605814
Samples1780862127_A
Known GenesINTS1, MAFK, MICALL2, TMEM184A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11135n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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